Another rare form of an inherited disease described by doctors and researchers

Hypertrophic cardiomyopathy (HCM) is a common inherited disease that is accompanied by severe fatal complications and is considered to be one of the most common causes of sudden death in young people. The genetic spectrum of HCM is well known and includes the 8 to 10 most common genes that cause about 80% of all HCM cases. However, the nature of the remaining 20% remains unknown.

The genetic causes of these cases are identified using the most modern technologies, including whole-exome and genome sequencing, positional mapping, RNA sequencing. The specialists of Almazov Centre used these approaches as part of the project of the World-Class Research Centre (WCRC)  for Personalized Medicine, to identify new, previously undescribed genetic variants in the TRIM63 gene associated with a rare form of autosomal recessive pattern of HCM.

To date, there are only two publications in the world devoted to this rare HCM phenotype. The nature of the disease still remains largely unknown, the molecular mechanisms are almost not described, and given the rarity of this form, the possibilities of personalized therapy for this genetic disorder have not been determined. The description of the first cases by our scientists will contribute to initiating an in-depth molecular analysis, creating cell models and exploring the possibilities of using modern gene therapy and targeted molecular drugs to treat this rare life-threatening condition.

04.02.2022