A Rare Genetic Mutation that Can Stop You From Sweating

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Many people especially the ones who are thin may have noticed that they do not sweat as much as compared to the ones who have more fat. Sweating or perspiration can be a social deterrent due to its odour. Yet, clinically sweating is a healthy sign as it removes the toxic elements from our bodies which otherwise would stay inside us resulting in various complications.

The sweat glands which are responsible for the production of sweat release a salty liquid which is mostly water but may also contain minerals, lactate and urea. Sweating also helps in maintaining our body’s internal temperature. Inability to sweat may result in a heatstroke since the body cannot cool itself.

There are people who suffer from a rare disorder called anhidrosis which does not allow them to sweat. Also known as hypohidrosis, it is very difficult to diagnose in patients and the milder ones often go unrecognized.

A new study conducted by Katsuhiko Mikoshiba, a molecular cell biologist at the RIKEN Brain Science Institute in Japan, and Niklas Dahl, a genetics researcher at Uppsala University in Sweden has shown that this rare occurrence could be caused by a mutation in a single gene.

A Pakistani family and their children were used for the study of this type of genetic mutation. Normally in the case of Anhidrosis patients, the sweat glands are either damaged due to some kind of trauma or developmental conditions. But in the case of the Pakistani parents who happened to be relatives, the sweat glands were found to be normal.

Point Mutation occurs when there is a change in a single “letter” of an individual’s genetic code.

After a thorough research the scientists found that a mutation in the gene called ITPR2 was causing the problem. The ITPR2 gene controls a basic cellular process in the sweat glands. One of the functions of this gene is to encode a protein named InsP3R.

The InsP3R helps in cell functions by moving calcium ions in and out of cells. Due to the mutation, this particular protein turned out to be faulty as it was not able to release calcium ions.

Calcium ions are very important for various cellular processes like saliva production, organ development like the heart as well as in functioning of the muscles.

Also Read: Late Mariage May Bring Genetic Mutations in Offsprings

Even though the Pakistani family was having this rare defect, other than not sweating they did not show any other symptoms like dryness of mouth. Researchers said that even though InsP3R protein was faulty, it may be performing some other functions in the sweat glands instead of the salivary glands or other organs of the body.

The surprise was that a point mutation, not a large deletion, was enough to cause the human disorder.

They also concluded that other types of this protein may be compensating for the faulty one in other organs which may be the reason why the Pakistani family did not experience dryness in their mouths.

Mr. Mikoshiba terms this particular mutation as a Point Mutation which occurs when there is a change in a single “letter” (such as A, T, G or C) of an individual’s genetic code.

This is different from deletions mutations in which a large amount of genetic material is lost. In a statement, Mr. Mikoshiba said, “The surprise was that a point mutation, not a large deletion, was enough to cause the human disorder.”

The researchers also found similar results in mice where the mouse that lacked ITPR2 gene sweated less in their paws as compared to the other mice having normal gene.  For detailed analysis visit The Journal of Clinical Investigation.

This discovery could prove beneficial in the treatment for the people having excessive sweating or Hyperhidrosis which is a common problem which affects almost 2% of the population.

Currently there are drugs which can be used to control sweating. Reducing stress levels also helps in controlling sweat. Perhaps with more research, better ways of controlling sweat will be found.

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