Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

ABSTRACT:

Importance

The important depletion of mitochondrial DNA (mtDNA) and the general depression of mitochondrial respiratory chain complex levels (including complex II) have been confirmed, implying an increasing paucity of mitochondria in the muscle from patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectively).

Objective

To investigate mitochondrial dysfunction in a large series of muscle biopsy samples from patients with SMA.

Design, setting, and participants

We studied quadriceps muscle samples from 24 patients with genetically documented SMA and paraspinal muscle samples from 3 patients with SMA-II undergoing surgery for scoliosis correction. Postmortem muscle samples were obtained from 1 additional patient. Age-matched controls c

SUBMITTER: Ripolone M 

PROVIDER: S-EPMC4944827 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature