Unlock your genetic potential or gift the power of personalized health. Browse our Supersaver Packs now.
Can men get breast cancer? Breast cancer is not just a woman's disease. It can also affect men. In fact, male breast cancer makes up about 1% of all breast cancers diagnosed each year. Although the number of cases is small, it's important for men to be aware of the signs and symptoms of breast cancer so they can seek treatment early. With early detection, the chances of survival are much higher.
Breast cancer in men is a rare condition.
<1% of all breast cancer cases occur in men.
According to the Centre for Disease Control, 1 in every 100 breast cancer cases in the United States occurs in men.
Early diagnosis can lead to a better outcome for the disease.
There is a lack of awareness about breast cancer in men, which leads to late diagnosis.
Around 40% of breast cancer cases in men are diagnosed in the third or fourth stage.
This condition affects men and women differently.
Men have a lesser and smaller amount of breast tissue compared to women.
The cancerous lumps are smaller, but there is a higher chance of cancer spreading to other tissues in the body.
Common symptoms include
A family history of breast cancer increases the risk of developing breast cancer in men.
About 1 in 5 breast cancer cases in men is hereditary.
The relative risk of breast cancer for a woman who has an affected brother is approximately 30% higher than for a woman with an affected sister.
Abnormal changes or mutations in certain genes result in an increased risk of breast cancer. BRCA1, BRCA2, CHEK2, PTEN, and PALB2 are few genes associated with breast cancer risk in men.
Men with a mutation in the BRCA2 gene have a 7 in 100 chance of developing breast cancer.
Men with a mutation in the BRCA1 gene have a 1 in 100 chance of developing breast cancer.
Other than genetics, factors that influence breast cancer risk include:
The risk of breast cancer increases with age. According to the CDC, the average age of men diagnosed with breast cancer is 65 years.
Elevated levels of estrogen, one of the two main female sex hormones, contribute to the development of breast cancer.
Certain conditions or treatments can lead to an increase in estrogen levels. These include:
Being overweight or obese and engaging in low levels of physical activity contribute to the risk of breast cancer. Heavy drinking may also increase breast cancer risk.
Men who have undergone radiation treatment to the chest area may be at higher risk of developing breast cancer.
Injury or swelling in the testicles, an undescended testicle, or surgery can increase the risk of breast cancer.
Early detection of breast cancer favors early treatment and a better outlook.
This helps prevent the spread of breast cancer to other tissues in the body.
Men with a family history of this condition should undergo regular screening.
Those at a higher risk of developing breast cancer can opt for genetic testing to see if they carry pathogenic variants.
A healthcare provider and a genetic counselor can help you understand risk assessment and the implications of the test.
They can tell you about the pros and cons of the test, your testing options, and further interpret the results and their significance.
There are several health conditions like hypogonadism that can increase estrogen levels.
Even certain antibiotics can increase estrogen levels.
It is important to consult your doctor for advice regarding lowering your estrogen levels in these cases.
Staying active, eating healthy, quitting smoking, and cutting down on alcohol can help keep your hormones in check and lower the risk of breast cancer.
Treatment options include chemotherapy, radiation, hormone therapy, targeted therapy, and surgery.
Based on the diagnosis, the doctor will prescribe the necessary treatment.
When it comes to treating breast cancer, hormone therapy is one option that doctors may prescribe. This treatment works by either stopping the production of hormones or blocking the effects of hormones on cancer cells. While hormone therapy can effectively treat breast cancer, there are also some potential risks and side effects associated with this type of treatment. In this article, we will look at some of the pros and cons of hormone therapy for breast cancer.
Hormone therapy for cancers works by blocking the hormones from attaching to their receptors on the cancer cells and preventing their growth.
It also decreases the production of specific hormones in the body.
Hormone therapy for breast cancer is effective only if it has receptors for estrogen or progesterone.
They are called ER-positive and PR-positive breast cancer, respectively.
These types of breast cancers rely on hormones for their growth.
Thus, lowering the production or preventing the attachment of hormones can help treat cancer.
Hormone therapy can be done before surgery to shrink the tumor for easy removal.
It can also be done after surgery to reduce the chances of recurrence.
Hormone therapy is available via pills, injections or surgery that removes hormone-producing organs, namely the ovaries in women and the testicles in men.
Aromatase inhibitors block the aromatase enzyme activity.
This enzyme helps produce estrogen in the body.
Aromatase inhibitor medications are typically given to postmenopausal women.
Premenopausal women have too much estrogen for aromatase inhibitors to be effective.
In this case, aromatase inhibitors may be used in combination with another drug that can suppress ovarian function.
Examples of aromatase inhibitors approved by the FDA are anastrozole (Arimidex) and letrozole (Femara), both of which temporarily inactivate aromatase, and exemestane (Aromasin), which permanently inactivates aromatase.
Before menopause, ovaries produce the majority of estrogen.
Breast cancer in these women can be treated by suppressing (or eliminating, if required) the ovarian function.
Surgery (removal of ovaries - oophorectomy) and radiation therapy are two options for this.
They both are permanent treatment options.
Ovarian function can also be temporarily suppressed with gonadotropin-releasing hormone (GnRH) agonists, also known as luteinizing hormone-releasing hormone (LHRH) agonists.
These medicines block and interfere with the signals that instruct the ovaries to produce estrogen.
ER+ breast cancers depend on estrogen’s attachment to cancer cells for growth.
Several drugs interfere with estrogen binding to stop or slow breast cancer growth.
Some of them are
Pros
Cons
Pros
Cons
Pros
Cons
Breast cancer treatment depends on a lot of factors like the stage of cancer, the type, how fast the tumor is growing, the tumor’s recurrence rate, and the age, health, and menopausal stage of the woman.
Other than hormone therapy, a few options for breast cancer treatment are:
Hormone therapy works by lowering the levels or blocking the effects of hormones that help cancer cells thrive.
In breast cancer, hormone therapies can block estrogen production or prevent it from binding to the cancer cells.
Common side effects of hormone therapy include hot flashes, changes to the menstrual cycle, mood swings, night sweats, and lowered sexual drive.
Rarely, bone loss, blood clots, heart failure, and cataracts may occur.
Other treatment options for breast cancer include chemotherapy, radiation, immune therapy, and surgery.
Baldness is a harmless yet frustrating problem affecting millions around the world. While baldness is often identified as a male issue, in reality, it can affect anyone, despite gender.
By age 35, two-thirds of all men in America will experience hair loss. Men and women experience balding in two different predictable patterns - Male Pattern Baldness (MPB) and Female Pattern Baldness (FPB).
In men, MPB can start as early as in the 20s, and in general, 95% of hair loss experienced by men is due to MPB.
Women usually experience FPB after menopause.
By the age of 80, about 50% of women experience balding.
Both MPB and FPB are commonly called androgenetic alopecia.
While there could be different factors influencing hair loss and baldness, genetics play a significant role in determining whether or not a person would be affected by androgenic alopecia.
Researchers have identified a number of genes associated with balding.
In the sample report below, we've attempted to analyze some important genes that increase the risk of balding.
You can identify your genetic risk of balding by using your 23andMe DNA data and placing an order for the Gene Health Report.
A study published by The Journal of Gerontology suggests that up to 79% of MPB could be heritable. Men inherit their X chromosome from their mothers and Y from their fathers.
The AR (Androgen Receptor) gene, found on the X chromosome, is strongly associated with baldness.
As a result, until recently, people assumed that male pattern baldness is only inherited from the mother.
Right now, though, experts think differently.
There is not one single gene that causes androgenic alopecia.
A 2017 study shows up to 63 genes may be involved in causing baldness.
Out of these, only 6 of these genes are on the X chromosome.
Therefore, both the mother’s and the father’s side of your family may cause pattern baldness.
Having a close relative from either side of the family with pattern baldness increases your risk of developing balding too.
Male Pattern Baldness (MPB) is the predictable pattern in which men start losing hair and experience balding.
The typical pattern starts at the hairline, and hair starts receding, forming an ‘M’ shape. The hair at the center of the crown begins thinning next.
Eventually, only the hairs at the sides of the head remain, and the center ‘U’ shaped area gets bald. This is called a horseshoe pattern.
MPB is a result of fluctuating male hormones called androgens. The androgens regulate hair growth.
High levels of androgens in the body can affect the hair growth cycle, and over time, the hair follicles shrink, and new hairs stop growing, causing baldness.
While there are multiple genes causing hair loss, both on the X and Y chromosomes, the most popularly discussed one is the AR gene.
The Androgen Receptor gene affects androgen production in the body. Changes in this gene may increase the activity of androgen receptors in the scalp.
As a result, the hair growth cycle is disturbed, and new hairs stop growing at the end of the cycle.
A study analyzed if specific Androgen Receptor polymorphisms (StuI restriction fragment length and two triplet repeats) caused balding in 54 younger men and 392 older men.
The study showed that the androgen receptor gene StuI restriction site was found in 98.1% of younger men and 92.3% of older men with balding.
Other than heredity, here are other causes that can lead to balding.
Apart from genetics, other factors like stress, pregnancy, and certain kinds of tumors can cause androgen fluctuations, leading to temporary or permanent balding.
Drug-induced alopecia is a condition that causes hair loss and balding as a result of using certain drugs.
About 15% of patients on lithium-based drugs seem to develop hair thinning.
Specific antihypertensive, anticonvulsant, and antipsychotic drugs can also cause hair loss and balding.
Talk to your doctor to understand your risks if you are on any of these medications.
As people age, non-androgen-dependent hair thinning can lead to balding.
With age, the hair follicles shrink, and the hair diameter reduces, leading to hair loss and balding.
Smoking reduces blood flow to the scalp, affecting the hair growth cycle.
Smoke can also damage the DNA of the hair follicles, increasing a person’s risk of hair loss and balding.
When a person is stressed, the body releases a stress hormone called cortisol.
Cortisol may negatively affect the hair follicle cells, leading to problems like hair thinning, greying, and balding.
If your DNA says you have a higher risk of developing androgenic alopecia, it means some of your genes may encourage balding over time.
Some people may be carriers of balding genes but may not experience the condition themselves.
They may, however, pass the genes on to their children and grandchildren.
If you have the genes for balding, healthy lifestyle changes, getting the proper nutrients, using safe hair care products, and using certain topical medicines may help postpone the condition.
Some people may opt for hair transplantation surgery (transplanting healthy hair follicles from one section of the scalp to the balding areas) to handle the condition.
Along with the AR gene, many other genes can encourage balding in men and women.
Getting your genes tested early on will help you know if you have a risk for balding.
Genes, along with lifestyle habits and factors like the quality of water and hair care products used, can all affect the rate and extent of balding.
Corneal thickness is an important factor in diagnosing and managing glaucoma. Measuring the thickness of the cornea can help to identify early signs of the disease and determine the best course of treatment. A thin cornea is more susceptible to damage from high intraocular pressure, a common glaucoma symptom. This makes early detection and treatment of the disease essential to preserving vision.
Researchers have identified a number of genes associated with glaucoma.
In the sample report below, we've attempted to analyze some important genes that increase the risk of glaucoma.
You can identify your genetic risk of glaucoma by using your 23andMe DNA data and placing an order for the Gene Health Report.
Corneal thickness is a measure of the distance from the front surface of the cornea to the back surface of the cornea.
The average thickness of a human cornea is about 0.5 mm.
It is important because it affects how light travels through the eye and how well the eye can focus.
Corneal thickness can affect eye pressure reading.
Also called intraocular pressure (IOP), eye pressure is a measure of fluid pressure inside the eye.
Accurate and precise IOP readings are crucial to evaluate a patient's risk of progressive optic nerve damage.
It is an important reading taken during ophthalmic evaluations, especially for people with ocular hypertension and glaucoma and people at risk for glaucoma.
When the cornea is thinner than normal, it can result in an underestimation of the IOP, and when it’s thicker, it can result in an overestimation.
This can affect the diagnosis and treatment of glaucoma and ocular hypertension.
Corneal thickness has been hypothesized to be a risk factor for glaucoma.
A thinner cornea increases the risk of developing glaucoma and its rapid progression.
However, whether the corneal thickness is a true independent risk factor for glaucoma remains unanswered.
A study published in the Ophthalmology journal attempted to address this.
According to the results, corneal thickness as a prognostic factor of glaucoma doesn’t entirely revolve around its effect on the IOP measure.
Rather, it influences other structural and physical factors that affect the pathogenesis of glaucoma.
Central corneal thickness (CCT) is one of the most heritable human traits with a strong genetic component.
Despite its high heritability, until recently, studies could explain only 8.5% of the variance in CCT.
This includes 44 genomic loci (or locations in a gene).
A large study involving nearly 45,000 individuals attempted to identify additional genetic links to CCT.
The researchers discovered 98 genomic loci, 41 of which haven’t been identified in previous studies.
This study helped explain 14.2% of the variance in CCT.
Among these loci, a variant in the RAPSN gene (indicated as rs3740685) was significantly associated with glaucoma.
Corneal thickness affects how light travels through the eye.
It can lead to incorrect intraocular pressure readings (IOP), an important measurement criterion for glaucoma.
A thinner cornea has been associated with an increased risk for glaucoma.
However, studies suggest that corneal thickness affects the prognosis of glaucoma not only through IOP but also through other physical and structural changes associated with glaucoma.
Corneal thickness has a significant heritable component, and studies have been able to explain a 14.2% variance.
https://pubmed.ncbi.nlm.nih.gov/21705084/
https://www.nature.com/articles/s42003-020-1037-7#Sec16
Depression is a complex mood disorder that affects both physical and mental health, considerably reducing an individual’s ability to function in their daily life.
Depression has also been strongly linked with suicides. Suicidal deaths and self-harming behavior can be avoided if depression is identified at an early stage.
The answer to this lies somewhat in your genes.
Some variants in your genes increase the risk of developing depression that slowly tends to negatively impact the overall mood, irrespective of whether being diagnosed with depression or not.
At Xcode Life, we focus on identifying genetic factors and give you science-based recommendations to help reduce the influence of these factors on your mood.
Now that we know what depression is, the next thing you will be curious to know is whether it is a treatable condition after diagnosis.
The answer is yes!
Depression is a treatable condition. There are various methods of treating depression. The most widely used ones are psychotherapy and antidepressant medications. If you find yourself experiencing any of the depression symptoms, you should immediately seek assistance from a medical professional.
A medical psychiatrist can provide both psychotherapy services and prescribe antidepressants, which differ for each person, based on individual needs.
Talk about it! Talking to a counselor or a medical professional is the first step to living a happier, more fulfilling life.
However, when therapy and medications don’t seem to be working, the other two options your doctor may suggest are:
ECT is based on the principle of stimulating the brain using electrical pulses to trigger an epileptic seizure and reduce the symptoms of mental disorder.
rTMS, on the other hand, is used to study the relationship between the brain and behavior of an individual with the disorder. It uses a special kind of magnet to excite certain areas of the brain for activity. This helps the parts of your brain that control your mood work better.
Hand-Picked article for you: Have Your 23andMe Raw Data? Use It To Get 500+ Health-Realted Genetic Traits!
When left untreated, depression can have severe consequences. It increases the chance of risky behavior with potentially dangerous consequences such as drug or alcohol addiction.
It could cause problems at the work-place, and make it difficult to overcome this severe illness.
Suicidal tendency is another symptom of depression, which becomes stronger when depression is left untreated.
People with depression are more likely to have heart problems, inflammatory conditions, or autoimmune disorders such as irritable bowel syndrome (IBS), diabetes, arthritis, and cancers.
The Xcode Life Gene Health report does not help with the treatment directly but provides you with insights on how to hack your genes to understand a little more about how depression affects your body.
You can upload your DNA raw data from 23andMe, Ancestry DNA, Family Tree DNA, etc. to get information about the genetic variants of depression that you carry.
Depression is of different types. Several other disorders and conditions also have depression as one of their symptoms. Some commonly occurring depression types are:
According to the National Institute of Mental Health (NIMH), an estimated 16.1 million American adults have suffered from a major depressive episode at least once. Multiple factors lead to an increase in one’s likelihood of developing depression.
Some prescribed medications have been directly linked to depression. For example, few medicines used for the treatment of blood pressure, arthritis, Parkinson’s disease, seizures, birth control pills, and some pain killers are said to lead to depression.
Even drugs used in the treatment of insomnia and anxiety lead to depression.
If you are taking any of these medications and are concerned, please talk to your doctor.
Studies have shown that depression can deteriorate over a period of time, with some people experiencing it only once in their lifetime.
Hence, it is better to visit your therapist or physician for a checkup after your treatment is completed.
When the possibility of a relapse is high, it is advisable to follow a proper diet, avoid stress, to exercise and practise yoga regularly, sleep well, avoid alcohol an drug consumption, and continue talk therapy to avoid setting in of depressive thoughts.
Many genes influence depression. Some of these include genes involved in the creation of neurotransmitters, such as:
The exact cause of depression is unknown. However, it has a strong genetic component.
An individual's genetic makeup can only indicate that one is potentially more susceptible to developing depression, but does not necessarily mean that one will.
First-degree relatives of people with major depression, including parents, siblings, and children, have been found to have a 2-3 times higher prevalence of developing major depression than their counterparts.
Twin studies, which look at how frequently pairs of twins have the same trait, also provide evidence of a genetic link. Pairs of non-identical twins were found to have a major depression rate of 20%.
However, with pairs of identical twins (who share the same genetic material), the rate rose to about 50%.
Yet, so far, no genetic studies have identified what these specific genes for major depression are.
Anxiety disorders affect women twice as frequently as they do men. Studies have shown that people with depression often experience symptoms of an anxiety disorder and, if left untreated, can cause unnecessary suffering and impairment for both the individual and his/her family.
There have been studies that show that autism and depression occur together with a higher probability in older children with an autism spectrum disorder.
Stress creates alertness, provides motivation, and primes you to danger response. So, stress is good for you. However, too much stress or chronic stress can lead to major depressive disorders in susceptible individuals.
Chronic stress leads to elevated levels of stress hormone (cortisol) and reduced levels of serotonin and other neurotransmitters in the brain, causing depression. When the stress response fails, it can lead to depression in susceptible people.
As humans, we are made to experience a rainbow of emotions. Sometimes feeling sad is an integral part of life. It is when it stretches to extended periods that it becomes a problem.
Though there are no proven diet recommendations that help relieve depression or prevent relapse, there are a few meal plans that can be used to train your brain to feel better and happier.
May foods contain antioxidants. They prevent body cells from oxidative stress caused by free radicals.
The human body forms these free radicals that cause cell damage and other complications, and are risky for the brain too.
These free radicals cause chronic diseases, including heart disease and certain types of cancers.
So, an antioxidant-rich diet rich helps reduce the risk of developing chronic diseases.
The antioxidants scavenge the free radicals from the body cells and prevent or reduce the damage caused by them.
Carbohydrates are linked to the mood-boosting brain chemical called serotonin. There is no proven evidence, but carbohydrate cravings sometimes may be related to low serotonin activity.
There is also an association between eating high-carb, high-fat, and high-sugar foods and a good mood. These foods alter the neurotransmitters' behavior in the brain and signal the nervous system activity to calm you down.
Hence, it is important to choose your carbohydrates wisely.
You must limit your consumption for sugary foods and opt for complex carbohydrates like whole grains rather than simple carbohydrates like cakes and cookies.
Fruits, vegetables, and legumes also have healthy carbohydrates and fiber content.
Food products rich in proteins help increase the alertness of the mind. Turkey, tuna, and chicken have an amino acid called tryptophan that helps make serotonin.
So, try to eat something with protein several times a day, when you need to boost your energy.
Studies have shown that blackcurrant juice has an impact on alertness, mood, and brain activity in young adults.
Also, coffee or caffeine consumption is not harmful if consumed at levels of 200 mg in one cup of coffee or 400 mg daily.
It causes many positive actions in the brain. It increases alertness, helps in concentration, and limits depressive feelings.
Lifelong caffeine consumption has been associated with the prevention of cognitive decline and reduced risk of developing stroke, Parkinson's disease, and Alzheimer's disease.
Following are some food suggestions that can help increase alertness:
There are a few mood-boosting products that you must include in your next grocery list to keep any signs of low mood or depression away:
Dark Chocolate is one of the best comfort foods, and most people would vouch for it. The taste of chocolate produces a near euphoric state in many people. It is also full of protein and fiber and supports a positive mood and healthy cognition.
Herbal teas like chamomile, black, green, white and rooibos teas have a calming effect & are also rich in antioxidants. So, drinking a cup of warm tea helps relieve stress.
Oats are active mood boosters as they release energy slowly into the bloodstream that keeps blood sugar levels and mood stable. Oats also contain the mood-boosting mineral selenium.
Water is essential for our body. Dehydration can severely affect our ability to concentrate.
Vitamin D is called the sunshine vitamin. It increases the production of the neurotransmitters that are associated with mood, like serotonin. Research has also shown that taking vitamin D supplements helps maintain a positive mental state.
Other studies have found a relationship between low levels of vitamin D, depression, and Seasonal Affective Disorder.
During cold months, most of us tend to stay indoors. And our skin is unable to produce the required natural vitamin D as it does in warmer seasons.
Many people may experience subtle changes in the mood but may not realize it women are four times more likely to experience sadness or depressed moods seasonally.
While we now know what to eat to keep our mood and spirits high, we must also know which foods are associated with mood problems. Certain foods trigger bad moods and should therefore be avoided. These foods include alcohol, sugar, bread, pasta, potatoes, and white rice.
When you are going through a tough time, it is normal to feel down for a while. However, if you are feeling sad or miserable most of the time and over a long period, you may be suffering from depression.
Take this self-test that can help you figure out whether you are showing any of the warning signs of depression. This won’t give you a diagnosis, but it will help you decide your next step.
Click here to take the depression Self-Examination Questionnaire.
Recovering from depression is not easy, and the recovery period for each individual differs (from a few weeks or months). For about 20% of people who have depression, the symptoms do not entirely fade away.
Depression forces the body and brain into a death-trap of sorts. The stages of how depression affects the brain have also been compared to severe forms of trauma that are difficult to recover from.
Usually, the brain releases high levels of dopamine during stressful situations. This usually helps the person get back to normal.
When extreme depression hits the part of the brain which controls emotions and motivation, dopamine production goes for a toss, making it hard for the body to process negativity.
When the brain is pushed into extreme negativity, it declines its functioning power.
The answer is yes. During a period of severe depression, your personality does get affected. The way we see the world and the ability to empathize with others diminishes, and you have less energy, so your social activities change, and you’re likely to want to get away from people.
Some people experience personality changes in response to stress hormones, which are part of their internal environment.
Some personality changes in stressed people include: irritability, hostility, frustration, anger, aggressive feelings, and behaviour, decreased interest in their appearance, decreased concern with punctuality, obsessive/compulsive behavior, reduced efficiency or productivity at work, making excuses to cover up poor work, excessive defensiveness or suspiciousness, problems in communication, social withdrawal and isolation, impulsivity.
Upload it to Xcode Life for insights into 700+ health-related traits!
People unable to hear sound thresholds of 25dB in at least one ear are diagnosed with hearing loss.
Profound hearing loss (unable to hear sound thresholds of more than 90 dB) is called deafness.
According to the National Institute on Deafness and Other Communication Disorders (NIDCD), one in eight people in the United States (aged 12 and older) have hearing loss.
Hearing loss can occur due to the following reasons.
Genetic mutations (abnormalities in specific genes) can cause hearing loss and deafness. We will discuss more on this in the coming sections.
Other external causes could cause hearing loss/deafness. Some of them are mentioned below.
TORCH organisms (toxoplasmosis, rubella, cytomegalovirus, and herpes) can cause infections in the fetus and lead to hearing loss/deafness in infants.
Congenital cytomegalovirus (CMV) infection can affect the fetus and lead to hearing loss.
Bacterial meningitis infection affects the spinal cord and brain of infants and toddlers, which can also lead to hearing loss.
Noise-Induced Hearing Loss (NIHL) seems to have already affected 5% of the global population.
NIHL is hearing loss due to exposure to loud noises.
Toys, vehicle sounds, sound exposure from using personal audio devices, and workplace noise can all lead to NIHL.
Image: Characteristics of noise-induced hearing loss
Non-genetically, age-related hearing loss could be due to the loss of cochlear hair cells.
These cells are a part of the auditory system’s sensory cells and help transmit electrical signals from the ear to the brain.
They decline as a person ages, leading to hearing loss.
Some of the risk factors for hearing loss are
Yes. Hearing loss could be hereditary. A parent with a mutated gene for hearing has a 50% chance of passing the gene to the child.
Genes contain information on how the body functions and performs.
Specific changes in the genes may prevent the ears from functioning as they should.
Hearing loss that occurs due to gene abnormalities is called genetic hearing loss.
There can be two kinds of genetic hearing loss - Syndromic and non-syndromic.
Syndromic genetic hearing loss - This is associated with damage or malfunctioning of the external ear or other medical conditions/organ damage.
About 20% of all genetic hearing loss is syndromic. It is easier to identify syndromic hearing loss as the signs are visible.
Non-syndromic genetic hearing loss - This is associated with malfunctioning of the middle or inner ear. No visible signs or symptoms are seen.
Up to 80% of genetic hearing loss is non-syndromic.
More than 100 genes cause hearing loss in human beings. Some of the major ones are:
GJB2 (gap junction protein beta 2) gene
Changes in the GJB2 gene may cause severe to profound non-syndromic hearing loss.
This gene provides instructions for the production of the connexin 26 protein. This protein is found in the cochlear cells in the inner ear and plays a role in hearing.
STRC (stereocilin) gene
Changes in the STRC gene may lead to mild-to-moderate forms of hearing loss.
This gene helps produce the stereocilin protein, which is also found in the inner ear and helps in hearing.
WFS1 (wolframin ER transmembrane glycoprotein) gene
The WFS1 gene helps produce the wolframin protein.
This protein helps balance calcium ion levels in the inner ear, which are needed for hearing.
Changes in wolframin protein levels may cause hearing loss.
The American Hearing Research Foundation says that one out of every 1000-2000 children born has congenital deafness (inherited at birth).
About 80% of congenital deafness could be genetically influenced.
Some people may be born with average hearing ability but develop hearing loss over time due to age.
About 35-55% of age-related hearing loss could also be genetically inherited.
Deafness follows several patterns of inheritance, some of which are:
Image: Inheritance Patterns of Hearing loss
Source: https://genominfo.org/m/journal/view.php?number=521#b221-gi-2018-16-4-e20
While environmental factors can also cause hearing loss, genetics significantly influence hearing loss or deafness.
According to CDC, up to 60% of all hearing losses in babies are hereditary and genetically influenced.
Sometimes, a person’s genetic makeup and environmental factors may work together to cause hearing loss.
Genetic testing may help identify a person’s risk of developing hearing loss.
In case of high genetic risk, controlling the environmental causes may help reduce the extent of damage or postpone developing the condition.
