Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.

ABSTRACT:

Background

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in nuclear genes DNAJC30, NDUFS2 and MCAT. MCAT is part of mitochondrial fatty acid synthesis (mtFAS), as also MECR, the mitochondrial trans-2-enoyl-CoA reductase. MECR mutations lead to a recessive childhood-onset syndromic disorder with dystonia, optic atrophy and basal ganglia abnormalities.

Methods

We studied through whole exome sequencing two sisters affected by sudden and painless visual loss at young age, with partial recovery

SUBMITTER: Fiorini C 

PROVIDER: S-EPMC10804020 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature