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Polycystic ovarian syndrome (PCOS) is the most prevalent hormonal disorder affecting females. It is a common cause of menstrual irregularities and infertility during reproductive age. It causes symptoms affecting various body parts, from the skin to the hair. Emerging research suggests an association between PCOS and autoimmune disorders; This raises an important question: Is PCOS an Autoimmune Disease?
PCOS is a common hormonal disorder that can affect women of reproductive age.
The condition is caused by an imbalance of hormones, which can lead to irregular periods, excess hair growth, and difficulty getting pregnant.
The ovaries produce excessive male hormones (testosterone), which can cause the ovaries to become enlarged and develop cysts.
Although there is no cure for PCOS, treatment can help manage the symptoms.
Sometimes the immune system makes a mistake and attacks the body's tissues or organs. This is called autoimmunity.
Although the exact reason for autoimmunity is unknown, various mechanisms have been suggested for its development.
Sequestered antigens are some proteins in the body that are hidden from cells of the immune system, and thus the immune system never encounters them.
When these proteins are released due to accidental trauma or injury, they can initiate an immune response that may trigger autoimmune diseases.
Molecular mimicry is one of the leading mechanisms by which infectious or chemical agents may induce autoimmunity.
Here, autoimmunity occurs due to the close similarity between environmental substances and certain components in the body.
When the immune system generates a response against these foreign substances, it cross-reacts with the body's tissue.
In some cases, drugs can bind to normal proteins and change their properties, making them targets for immune attacks.
Tregs or regulatory T cells are important in suppressing unnecessary immune reactions and maintaining homeostasis.
Failure or decrease of Tregs can cause autoimmune disease.
Although research doesn’t conclusively state that PCOS is an autoimmune disorder, studies point out many similarities between both.
Autoantibodies
Both in PCOS and autoimmune diseases, autoantibodies can be detected.
In fact, autoantibodies are the hallmark of the latter.
Some common autoantibodies seen in both conditions are antinuclear antibodies, anti-thyroid antibodies, and anti-islet antibodies.
Insulin resistance
Insulin resistance is a significant risk factor for PCOS and is seen in several autoimmune disorders, such as rheumatoid arthritis and systemic lupus erythematosus (SLE).
The hormone insulin regulates blood sugar levels by storing excess sugar as fat.
With insulin resistance, the cells stop responding to the hormone insulin; as a result, more and more insulin is secreted.
In PCOS, excess insulin causes hormonal fluctuations and disrupts ovulation.
In autoimmune diseases, increased inflammation may drive insulin resistance.
There’s not too much clarity on what causes insulin resistance in PCOS, but an underlying autoimmune reaction could be the cause in some people.
Systemic Inflammation
Inflammation is the first line of defense against infection and is crucial for injury healing.
Scientific evidence suggests that irregular inflammatory responses can underlie autoimmune diseases like inflammatory bowel disease and rheumatoid arthritis.
Studies have shown that women with PCOS are more likely to have low-grade systemic inflammation.
Women with PCOS tend to have low levels of progesterone.
Progesterone is a hormone that occurs naturally in the body. It's involved in pregnancy and is produced mainly in the ovaries.
Progesterone is stimulated after ovulation.
Many people with PCOS have ovulation issues and therefore have lower progesterone levels.
With lower progesterone levels, estrogen is “unopposed,” leading to its excess levels in the body.
Increased estrogen production can trigger the secretion of autoantibodies.
Further, excess estrogen has also been tied to increased production of several proteins associated with inflammation like IL-4, IL-1, IL-6, and interferon-γ.
These effects are seen even after menopause.
Even with all these similarities, there’s no conclusive evidence to prove that PCOS is an autoimmune disorder.
Therefore, it still comes under the classification of endocrine (or hormonal) disorder.
Having said that, whether you have PCOS or autoimmune disorder, working on your immune system, lowering inflammation, and building up insulin sensitivity work well to manage the symptoms.
The presence of varying levels of autoantibodies in people with PCOS blows open a new avenue of research at a molecular level.
Since autoantibodies seem to affect long-term clinical management of PCOS, this new chapter of research can help discover better treatment options for those with PCOS.
Additional studies need to be performed at a genetic level to understand the contribution of autoimmunity to PCOS.
Tourette syndrome or disorder is a complex neurological condition characterized by sudden, repetitive, involuntary movements and noises called tics.
Tics usually show up in childhood, and their severity varies with time.
In most people with Tourette syndrome, the tics become milder and less frequent as they grow older.
People with Tourette syndrome show motor tics (uncontrolled body movements) and vocal tics (outbursts of sound).
One to ten in 1000 children may develop Tourette syndrome, but its exact incidence is unknown.
Tourette syndrome is also more common in people assigned male at birth (MAB) than those assigned female at birth (FAB).
The symptoms of Tourette syndrome begin between ages 5 and 10.
In children, the initial symptoms are usually mild, simple tics of the face, head, or arms.
Over time, the child may develop different tics that may happen more often and involve other body parts, like the trunk and legs.
Though symptoms vary in each child, a few involuntary, purposeless motor movements observed in Tourette syndrome include:
Vocal tics usually appear much later than motor tics and include:
Some people show complex tic behaviors that may look purposeful, such as:
Image: Is Tourette Syndrome Genetic? Symptoms of Tourette’s
Though the exact cause of Tourette syndrome is unknown, genetics and environmental factors are said to play a role in its occurrence.
The cause of Tourette syndrome is poorly understood.
Although environmental factors may play a role, genetic factors are thought to be the primary drivers of the pathogenesis of this disorder.
The fact that Tourettes has been seen running in families further substantiates the underlying genetic role.
Laboratory research has uncovered several loci (genetic regions) and genetic mutations associated with Tourette syndrome.
The several genetic changes identified may play an important role in explaining the variable symptoms observed in people with Tourette’s.
So far, no gene has been identified that is directly said to cause Tourette syndrome.
However, mutations in the SLITRK1 gene have been identified in a small group of people with Tourette syndrome.
The SLITRK1 gene gives instructions for producing a protein that probably plays a role in nerve cell development.
However, how the SLITRK1 gene causes Tourette syndrome is unknown.
Though the condition has a strong genetic link, the inheritance pattern of Tourette syndrome is unclear.
Tourette syndrome was previously thought to have an autosomal dominant pattern of inheritance (one affected or mutated gene copy in each cell is sufficient to cause the condition).
However, several decades of research have shown this is not the case.
Studies have shown that almost all Tourette syndrome cases result from genetic and environmental factors and not a single gene.
The risk factors for Tourette syndrome are unknown, but genes play a significant role.
Few suspected risk factors that may cause Tourette syndrome are:
Image: Is Tourette Syndrome Genetic? Children with Tourette’s
Tourette syndrome is usually diagnosed by a pediatrician or a qualified mental health professional who can identify the symptoms in children and adolescents.
The professional performs a comprehensive evaluation of the child or adolescent to diagnose Tourette syndrome, including
Most children are around seven years old when diagnosed with this disorder.
The treatment for Tourette syndrome in children depends upon several factors, including the severity of the condition.
While many children may not require treatment, some may require special classes, psychotherapy, and medications.
Comprehensive behavioral intervention for tics can help children manage and reduce tics.
Children with ADHD, OCD, or mood disorders may require medications.
Researchers have identified a number of genes associated with gallstone disease.
In the sample report below, we've attempted to analyze some important genes that increase the risk for gallstone disease.
You can identify your genetic risk of Gallstones by using your 23andMe DNA data and placing an order for the Gene Health Report.
Gallstones are common, with around 20% of the population affected. Many people wonder if gallstones are hereditary. The answer is not clear-cut, as many factors contribute to the formation of gallstones. However, some studies suggest a genetic predisposition. While more research is needed in this area, it is possible that gallstones may be passed down from generation to generation.
The gallbladder is a small, pear-shaped organ in the upper right abdomen, just below the liver.
The gallbladder's primary function is to store and concentrate bile, a yellowish-brown digestive fluid produced by the liver.
Bile salts help break down fats in the small intestine during digestion.
Gallstones are hardened deposits of digestive fluid that can form in your gallbladder.
Too much cholesterol, bile salts, or bilirubin (bile pigment) can cause gallstones.
Gallstones range in size from as small as a grain of sand to as large as a golf ball.
Some people develop just one large stone, while others develop many smaller stones.
What causes gallstones is still in the grey, but experts suggest 3 contributing factors.
Too much cholesterol in the bile: Cholesterol, when present in normal amounts, is digested by the chemicals in the bile. But if the lives secrets excess cholesterol, it may crystallize, resulting in gallstones.
Too much bilirubin in the bile: Bilirubin is a yellowish pigment produced during red blood cell breakdown. Certain conditions like liver cirrhosis result in excess production of bilirubin, which can cause gallstones.
Incomplete emptying of the gallbladder: If the gallbladder doesn’t empty correctly, the bile can become concentrated, resulting in gallstones.
Most people with gallstones have no symptoms.
However, if a stone gets stuck in the bile duct causing, it can cause pain in the upper abdomen or back between the shoulder blades.
The pain may be severe and come on suddenly.
Other symptoms may include:
If you have these symptoms, you should see your doctor.
They can do tests to find out if you have gallstones.
Treatment may help if you have pain or other problems from the stones.
According to published research, the risk for developing gallbladder diseases, including gallstones, run in families.
This underlines a genetic link.
Studies have identified a mutation in the gene that regulates cholesterol transport from the liver to the bile duct that can increase gallstone risk.
Mutations in other families of genes can cause defective proteins leading to higher levels of cholesterol or bilirubin.
It is not necessary that having a relative with gallstones means you or any other family member will develop it.
Having said that, it can serve well to be on the lookout for symptoms and follow a healthy diet.
Conditions like obesity, Crohn’s disease, or irritable bowel syndrome running in families can increase the risk for gallstones.
Women or people assigned female at birth (AFAB) are twice as likely as men to develop gallstones.
This risk increases further in those who are pregnant or are under hormone replacement therapy.
Too much estrogen can increase cholesterol in the bile and lessen gallbladder movement.
Gallstones occur up to 10 times more frequently in the older population, especially those over 60.
The highest risk for gallstones is in the Native American population (30-70%), and the lower risk is in Asian and African populations (less than 5%).
People who are overweight or obese are at increased risk for gallstones.
This is because excess weight can cause the overproduction of cholesterol.
Low-fiber, high-fat diet can increase gallstones risk.
Overconsumption of heme-rich food can also cause gallstones.
Messenger RNA (mRNA) is a molecule that helps "read" the genetic instructions of a gene and convert them into a protein. Proteins are the building blocks of all living things, so mRNA plays a vital role in synthesizing proteins. Without mRNA, proteins could not be made, and life as we know it would not exist.
mRNA are molecules that exist in all the cells of our bodies.
Unlike double-stranded DNA, RNAs are single-stranded.
Using DNA as a template, mRNA is made through the process of transcription.
mRNAs are the only type of RNA from which proteins can be made, thus making them as essential as DNA.
Transcription is the process of making an RNA copy using a DNA strand as a template.
Transcription is like translating a book from one language to another - a universal biological language that the cellular machinery can use to assemble amino acids and form proteins.
The synthesized mRNA is chemically similar to DNA except for a base change.
Instead of T (Thymine) in DNA, we have U (Uracil) in RNA.
mRNA is much smaller than DNA and is far less stable.
It has a very short half-life (from seconds to minutes or hours) compared to that of nuclear DNA (years)
Without mRNA, the human genetic code, the DNA, is 1.8 meters of junk.
The mRNA acts as an intermediary between the genetic information in DNA and the amino acid sequence of proteins.
Each mRNA carries instructions to make a specific protein.
These instructions are like a “blueprint.”
mRNA delivers these instructions, and cells put the protein together.
Translation involves decoding the letters of the mRNA strands to form chains of amino acids, called polypeptide chains.
The polypeptide later folds into an active protein and performs its functions in the cell.
mRNA also contains multiple regulatory regions that can determine the timing and rate of translation.
Two molecules called ribosomes and tRNAs are involved in translation.
The tRNA carries along with it an amino acid that will later become a part of the protein.
The ribosome provides a surface where tRNA can bind to the mRNA
Source: Wikipedia
Image: mRNA Translation into Proteins
Any abnormal changes in the DNA can lead to the transcription of defective instructions.
This can lead to insufficient or excess levels of a particular protein. It can also result in the production of abnormally functioning proteins.
Such defects in proteins can cause serious genetic disorders.
Over 200 diseases are associated with defects in pre-mRNA processing to mRNA.
*Pre-mRNA is the first form of RNA created through transcription.
The mRNA molecule transfers a part of the DNA code to various parts of the cells to make proteins.
DNA-based therapeutics must enter the nucleus to be transcribed into the RNA for the medication to work.
In contrast, mRNA-based therapeutics don’t need to travel to the nucleus since it gets translated into protein as soon as it reaches the cytoplasm.
Further, unlike DNA-based therapeutics, mRNAs do not go and integrate with the host’s genome (entire genetic material).
This eliminates the risk of new mutations.
Therefore, mRNA-based therapeutics are good options for cancer vaccines, tumor immunotherapy, and infectious disease prevention.
To trigger an immune response, many vaccines put a weakened or inactivated germ into our bodies.
For mRNA-based vaccines, laboratories create an mRNA that can teach a cell how to make a protein or a part of the protein.
This triggers an immune response, producing antibodies.
When we are exposed to that protein again, the same antibodies protect us from getting sick.
Unlike DNA-based drugs, mRNA transcripts have a relatively high transfection efficiency and low toxicity because they do not need to enter the nucleus to be functional.
The average lifespan of humans has gone from 36 to around 80 years. Today the world’s oldest living human is nearly 120 years old (Lucille Randon was born in February 1904 in France).
The world record for the oldest human being ever is currently held by Jeanne Calment, another Frenchwoman, at 122 years old (born. in 1875 and died. in 1997).
Several factors influence the average duration of human life, including the usual suspects: genetics, environment, and lifestyle.
By the turn of the 20th century, economic and environmental changes were in full swing.
The 1900s brought improved food availability, better access to clean water, and better living conditions.
Scientific understanding of infectious diseases has taken huge leaps, and this, in turn, positively impacted healthcare.
Better healthcare meant lower risk for infant mortality, improved chances of surviving childhood, and better awareness of how to avoid communicable diseases.
Needless to say, longevity and the study of human lifespan and whether or not it is controlled by systemic factors became a study of interest to scientists.
Long-living individuals like nonagenarians, centenarians, semi-supercentenarians, and supercentenarians were studied and interviewed to find a possible connecting pattern.
While the results showed that there were no remarkable similarities in education, income or profession amongst the subjects, they did share significant similarities in lifestyle habits.
For example, many of them were non-smokers, were not obese, and had better mechanisms for coping with stress.
Interestingly, most of them were women.
Due to their healthy habits, older adults were less prone to high blood pressure, heart disease, cancer, and diabetes compared to their peers.
The positive health effects of these older adults extended to their first-degree relatives (siblings and children).
Children and siblings of long-living adults are more likely to live long lives themselves, showing that there is a genetic link in this mechanism.
People whose parents are centenarian are less likely to have an age-related diseases that is common among adults who are more than 70 years of age.
Longevity, like other bodily phenomenons, tends to run in families and this led scientists to examine which genes were likely responsible for this effect.
Although still a developing science, around 25% of the variation in human life span is found to be determined by genetics.
The genes that are associated with longevity are APOE, FOXO3, and CETP.
Variations in these genes are found in all the subjects with extraordinary longevity.
Scientists have conducted whole genome sequencing in supercentenarians to try and identify these gene variations.
Results of these studies show an increased disease risk in individuals with an average life span.
Despite these results scientist hypothesise that the first 70-80 years in the lives of supercentenarians are more likely due to healthy lifestyle habits than genetics.
Nutritious and wholesome diets, low alcohol intake, not smoking, and staying physically active seem to have a higher weightage when it comes to longevity.
A healthy lifestyle is shown to have reduced the risk of such individuals for typical age related ailments like heart disease and high blood pressure.
In fact many nonagenarians and centenarians live a high quality life with no age-related disease until the fag end of their lives.
The genes that have been shown to have the maximum impact on longevity are related to maintenance and optimal functioning of the cells.
Critical cell functions like maintenance of telomeres, DNA repair, and protection from free radicals have a high impact on longevity.
Further genes that are implicated in risk of heart disease, the main cause of mortality in older people, also influence longevity.
These genes are involved in vital organ systems like the cardiovascular and immune system and processes like inflammation and maintenance of blood lipid levels.
These genes are also implicated in the risk of stroke and insulin resistance.
Regions like Okinawa (Japan), Ikaria (Greece), and Sardinia (Italy) are places where many people live to see their nineties or older.
Naturally, these are places of interest to scientists studying longevity.
Common themes in these countries are that still follow a very traditional way of life without major influences from the Western world.
Further studies are needed to understand the genetic and environmental factors influencing these populations.
Several factors influence the average duration of human life, including genetics, environment, and lifestyle. Commonly implicated genes associated with longevity are APOE, FOXO3, and CETP. Nutrition, low alcohol intake, not smoking, and staying physically active seem to have a higher weightage when it comes to longevity. Further studies are needed to understand the genetic and environmental factors influencing these populations.
Addison's disease is an adrenal insufficiency disorder in which the adrenal glands do not make a sufficient amount of a few hormones, including cortisol.
This disorder can occur in people of all ages and genders.
Since levels of essential hormones like cortisol are lower, Addison's disease can be life-threatening.
Addison's disease is considered an autoimmune disorder as it occurs due to the improper functioning of the immune system that results in attacking the adrenal glands.
This affects the hormone production by the adrenals.
A few common symptoms of Addison's disease are:
Other symptoms of this disorder include:
Some people with Addison's disease may have darkened skin that is more visible on scars and folds of the skin.
Since Addison's disease develops slowly over a long period, minor changes and symptoms are often overlooked.
If you feel any of the symptoms of Addison's disease mentioned above, visit your doctor for an evaluation and prompt treatment to avoid an adrenal crisis.
Image: Is Addison’s Disease Genetic? Common Symptoms
Addison's disease occurs when immune system cells attack and damage the outer part of the adrenal gland (called the cortex).
When over 90% of the adrenal cortex is damaged, the gland cannot produce sufficient hormones, resulting in Addison's disease.
It is still unclear why people develop this autoimmune disorder, but researchers speculate this disease may run in families.
Other causes of Addison's disease are:
Besides familial history, researchers also indicate that a few genes may increase an individual's risk for Addison's disease.
Studies show that the most common genes associated with Addison's disease belong to the human leukocyte antigen or HLA complex.
The HLA complex genes help the body's immune system differentiate between the body's proteins from those made by viruses and bacteria.
The most well-known risk factor for Addison's disease is a variant of the HLA-DRB1 gene, also called the HLA-DRB1 *04:04.
This variation of the HLA-DRB1 gene results in an abnormal immune response, damaging the adrenal cortex and causing Addison's disease.
The exact mechanism of how this gene damages the adrenal cortex is still unknown.
Based on symptoms, if the doctor suspects Addison's disease, they may take a detailed medical and familial history.
They may also screen for skin discoloration in areas such as:
The doctor will also check your blood pressure for hypotension, especially when you change position.
Diagnostic tests for Addison's disease include:
Medications are common treatment options for Addison's disease.
The most common and effective treatment for Addison's disease is hormone replacement therapy.
This treatment corrects or restores the steroid hormone the body is not producing adequately.
Other tips for managing Addison's disease include:
