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Hypertrophic cardiomyopathy (HCM) is predominantly a hereditary condition affecting the heart muscles, characterized by a preserved or enhanced ejection fraction without any secondary underlying causes. HCM is widely caused by mutations in genes that encode sarcomeric proteins. Nevertheless, there is limited knowledge regarding the genetic influence of non-sarcomeric proteins on HCM. In my study, we outlined our discovery of two novel non-sarcomeric HCM genes and their critical regulatory mechanisms in the disease pathogenesis.

1) Discovered variants in the RPS6KB1 gene, which cause HCM by activating S6K1/rpS6/ERK signaling

Paper published: Oct 2022, Journal of Medical Genetics; DOI: 10.1136/jmedgenet-2021-107866

PhD awarded: 2024

Dr. Pratul Kumar Jain

PhD Student (2019-2024)