What’s The Gene Mutation And How It Works


Mutations within the Troponin C gene (TNNC1) are a uncommon genetic cause of hypertrophic cardiomyopathy. A latest study has indicated that a frameshift mutation (c.363dupG or p.Gln122AlafsX30) in Troponin C was the reason for hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-yr-old male. Several diseases have frameshift mutations as at least part of the trigger. Knowing prevalent mutations can also assist within the analysis of the disease.

Currently there are attempts to use frameshift mutations beneficially in the therapy of ailments, changing the studying frame of the amino acids. Massively Parallel Sequencing is a newer technique that can be used to detect mutations. Using this methodology, up to 17 gigabases can be sequenced at once, as opposed to limited ranges for Sanger sequencing of solely about 1 kilobase. Several technologies are available to carry out this take a look at and it is being checked out for use in … Read More