Published on February 24, 2020

Ahmedabad: Practice of marriages within specific geo-cultural groups has led to founder mutations of genes in several parts of India. While two communities from Gujarat were flagged by researchers for genetic disorders earlier, experts on Sunday said that new studies have also identified Sathwara community in Gujarat and Agarwals of Mumbai having tendency for founder mutation leading to muscular dystrophy (MD).

Dr Siddharth Shah, a paediatric neurologist based in Ahmedabad, said that their study on Sathwara community has found genes responsible for the same type of MD. “In an earlier study of Agarwal community in Mumbai, it was found that two ancestral founder mutations were leading to MD. It might have arisen due to the practice of intra-communal exogamy,” said Shah. He was speaking on the sidelines of Annual CME Conference 2020 organized on theme of ‘Diagnosis, Screening, Treatment and Prevention of Rare Diseases.’

While prevalence of MD is very low — 1 case per two lakh live child births — such knowledge can help identify the signs earlier and can also motivate the community members to go for genetic match before matrimonial, said experts.

Dr Jayesh Sheth, chairman of the conference and chairman of city-based Institute of Human Genetics, said that earlier studies had pointed at prevalence of Tay Sachs in Parmar and Morquio in Patidar communities due to mutation of specific genes present in the community. “The motive of the conference is to encourage more paediatricians, neurologists and general practitioners to go for genetic tests for identification of rare diseases,” he said. “The school health programme is now identifying several of these cases.”

The conference highlighted rise in prevalence of Congenital adrenal hyperplasia (CAH), a disorder where the person’s adrenal glands doesn’t function normally and affects metabolism and immune system among other symptoms. Practitioners said that they used to see about three to four cases annually but now a few of the practitioners are attending to three to four cases on monthly basis.

‘These disorders can be treated’ 

Dr Nitish Vora, a city-based paediatric neurologist and one of the speakers at the event, talked on diagnostic approaches to paediatric neurology diseases. “Collectively, genetic disorders affect about 15% of the total population which is not a small number. Many of these disorders can be treated and can also be prevented from spread in next generation with proper treatment. Need of the hour is better awareness and genetic tests,” he said. Dr Vykunta Raju, a speaker from Bengaluru, said that in Karnataka availability of specialists in identification and treatment of these disorders has increased in past few years which has resulted in better identification and treatment.

Disintegration of nerve cells

In multi-centre study published in Journal of Human Genetics last year, the researchers found that a specific gene mutation leading to Tay Sachs disease — leading to disintegration of nerve cells in brain and spinal cord — was found in five of the patients, which was 14% of the study, from Gujarat. Median year of detection was 15 years and boys’ number was slightly higher than the girls. Experts at the conference on Sunday said that they have advised dissemination of information related to the mutations not with the names or genes but common symptoms associated with it so that even the health professionals in rural areas can conduct primary screening for the same.

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