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When a person develops a neurodevelopmental disorder such as autism, the severity of this disorder depends on genetic changes beyond a supposed mutation causing illness.
The total amount of rare mutations – deletions, duplications, or other modifications of the DNA sequence in a person's genome – may explain why individuals with a disease-associated mutation may exhibit very different symptoms.
The lead author of the paper, Santhosh Girirajan, said, "Genetic sequencing tools can reveal a large number of mutations in a person's genome, but the diagnosis usually focuses on identification." of a primary mutation as the cause of a disorder.
The research team examined genetic, cognitive and developmental information from individuals that contained one of two known mutations associated with the disease and their families. Individuals with one of the primary mutations who presented with clinical signs had significantly more genetic mutations than their parents or siblings who did not express clinical signs.
They suggest that the primary mutation sensitizes an individual to a particular disorder and that the genetic context defines the trajectory of potential clinical features.
This study focused only on the genetic changes that occurred in the parts coding for the genome proteins. The researchers plan to extend their research to the rest of the genome.
The complete results are present in the journal – Genetics in Medicine.
(This article has not been modified by Business Standard staff and is generated automatically from a syndicated feed).
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