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TL;DR
It is suggested that OPA1-mediated mitochondrial dysfunction represents a potential therapeutic avenue for the management of DCM and a significant correlation with the pathogenesis of DCM is highlighted.
Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation, and pathogenic variants in LMNA are a well-established cause of inherited DCM. The LMNA gene encodes nuclear lamins A/C, which maintain nuclear integrity, regulate gene expression and mediate mechanotransduction. Here, we inve...
Two compound heterozygous variants in the NDUFS1 gene in a patient presenting with optic atrophy are identified including the known variant c.64C>T p.(R22X) and a novel variant c.404G>A p.(G135D), associated with impaired complex I-mediated electron transfer and mitochondrial dysfunction, providing insights into the pa...
BACKGROUND Variants in the dynamin 1-like (DNM1L) gene, which encodes dynamin-related protein 1 (Drp1), can cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) and optic atrophy 5 (OPA5), two neurodevelopmental disorders with distinct symptoms. Given the critical role of Drp1 in mitoch...
Mitochondrial dynamics are essential for neuronal function, with dynamin-related protein 1 (DRP1), encoded by the DNM1L gene, playing a key role in mitochondrial fission. Pathogenic variants in DNM1L are associated with a spectrum of severe neurodevelopmental and neurodegenerative disorders. This study aime...
It is demonstrated that MAP3K7 variants can cause apparently isolated DCM, expanding the phenotypic spectrum of MAP3K7-related disorders, and establishing an association between MAP3K7 loss of function variants and DCM.
BACKGROUND Pathogenic variants in RBM20 cause severe dilated cardiomyopathy. Loss-of-function variants disrupt splicing; neomorphic gain-of-function (GoF) variants also mislocalize RBM20 to cytoplasmic ribonucleoprotein granules and are associated with more aggressive disease. The mechanism by which RBM20 mislocalizati...
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