A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.

ABSTRACT:

Background and purpose

Apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) in mitochondria has captured a great deal of attention due to its well-described function in apoptosis. Mutations in AIFM1 have resulted in multiple clinical phenotypes, including X-linked Charcot-Marie-Tooth disease type 4. These syndromes usually involve multiple locations within the nervous system and/or multiple organs. This study describes a novel missense mutation in AIFM1 and its associated peripheral nerve disease.

Methods

Patients with AIFM1 mutation were characterized clinically, electrophysiologically, genetically and by magnetic resonance imaging. The fibroblasts were isolated from the patients to study mitochondrial OXPHOS complexes.

Results

We identified a family with a n

SUBMITTER: Hu B 

PROVIDER: S-EPMC5693754 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature