The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.

ABSTRACT:

Background

Peripheral neuropathies are often caused by disruption of genes responsible for myelination or axonal transport. In particular, impairment in mitochondrial fission and fusion are known causes of peripheral neuropathies. However, the causal mechanisms for peripheral neuropathy gene mutations are not always known. While loss of function mutations in MYH14 typically cause non-syndromic hearing loss, the recently described R941L mutation in MYH14, encoding the non-muscle myosin protein isoform NMIIC, leads to a complex clinical presentation with an unexplained peripheral neuropathy phenotype.

Methods

Confocal microscopy was used to examine mitochondrial dynamics in MYH14 patient fibroblast cells, as well as U2OS and M17 cells overexpressing NMIIC. The consequence of t

SUBMITTER: Almutawa W 

PROVIDER: S-EPMC6642256 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature