- Select a language for the TTS:
- UK English Female
- UK English Male
- US English Female
- US English Male
- Australian Female
- Australian Male
- Language selected: (auto detect) - EN
Play all audios:
Scientists have pinpointed rare mutations in the RAF1 gene1 that could be behind the heart condition 'dilated cardiomyopathy' (DCM). DCM, marked by left ventricle dilation and
systolic dysfunction, affects around one in 250 people. The RAF mutants, identified in three cohorts (South Indian, North Indian and Japanese), were expressed in zebrafish embryos. The
researchers found that the embryos suffered heart failures with hyperactivation of the protein kinase AKT. The embryos were treated with rapamycin to restore health. The cause of DCM remains
unknown and there is no gene-specific therapy available till now. The researchers re-sequenced 53 DCM cases and 50 matched controls from cohorts of distinct ancestry. They discovered RAF1
mutations in three of the cohorts from south India, north India and Japan. The prevalence of RAF1 mutations was approximately 9% in childhood-onset DCM cases in these three cohorts. The
researchers says that the findings could provide new mechanistic insights and potential therapeutic targets for RAF1-associated DCM. The study also opens up the possibility of expanding it
to other RAF1-related human disorders.
