Home Social group Ahmedabad researchers discover the genesis of a genetic mutation affecting bones | Ahmedabad News

Ahmedabad researchers discover the genesis of a genetic mutation affecting bones | Ahmedabad News

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AHMEDABAD: Morquio A is a genetic disorder which affects the development of bones and spine and reduces the life span of the person. In Gujarat, one community has a prevalence of the disease of 1 in 10,000 live births, compared to 1 in 20,000 globally, indicating double the prevalence. A study by researchers in the city indicated that the disorder is the result of endogamy – the practice of marrying within a community over centuries – and originated 450 years ago!
The article “GALNS pR variant is a probable founder mutation from Gujarati India causing mucopolysaccharidosis syndrome IVA” was recently published in BMC Genomics, a journal of Springer Nature. The study was conducted by Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth and Jayesh Sheth.
Dr Harsh Sheth, Head of Advanced Genomics Technology at the Institute of Human Genetics (IHG) in the city, said that over the years Gujarat has been observed to have a higher prevalence of Morquio A per compared to other parts of India and the world. “So we identified families with a history of genetic disease and took their samples to find a common link,” he said.
The team managed to find the origin with all the samples showing a specific mutation – pR in the GALNS gene – responsible for the disease. The team members, buoyed by the success, attempted to determine the age of the mutations.
“Polymorphism – the presence of two or more variant forms of the same DNA sequence – is a way to find the ‘age’ of the mutation. In our case, the gap between the mutations was very narrow, indicating that ‘He was part of the sequence for Based on the computer simulation, we got the figure around 450 years,’ said IHG Director Dr. Jayesh Sheth.
In simpler terms, two individuals carrying the same mutated gene marrying in Mughal-era India resulted in the genetic disease which continued for four centuries, primarily due to the practice of marriage within a specific social group, reducing gene diversity!
The researchers said this may well be the first report of the founder variant, linking the disorder to the specific community in Gujarat, India. “Its implications are wide – if a specific family has a high prevalence of the disease, they can look for a genetic profile before conceiving a child to check whether both parents are carriers of the mutation. child is also possible. The only cure is enzyme replacement, which is prohibitively expensive. Prompt diagnosis is the best prevention we can offer,” Dr Sheth said.