A first-of-its-kind clinical study from India has found the specific phenotypic expression and clinical outcome of non-sarcomeric protein—PRKAG2-linked HCM in South Asia. The study, which was aimed at analyzing the inheritance pattern of the genetic mutation linked to hypertrophic cardiomyopathy (HCM), was conducted in a large number of multigenerational affected members from three unrelated families for a period of seven years.
HCM affects the health of the heart muscle. Though the genetic causes of about 40 to 50% of HCM cases are not yet known, it was believed that the mutations responsible for HCM were often localised to genes encoding sarcomeric proteins.
In the new Indian study published in Nature Scientific Reports, scientists from genetics research firm MedGenome, Bangalore, and Amrita Institute of Medical Science and Research, Cochin, reported a rare form of HCM where the mutation is identified in a nonsarcomeric protein PRKAG2 or Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2. The genetic data obtained in the study helped refine the clinical diagnosis providing a template for personalised treatment applying genomics in the clinic. The families in the study were followed longitudinally for over 7 years to understand the natural history and clinical outcomes of the affected individuals, adding to our knowledge of the disease and interventions needed.
Non-sarcomeric origin
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