ATP production is decreased in Friedreich Ataxia

Subject: ATP production is decreased in Friedreich Ataxia

Date: 10/22/1999

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
R Lodi, JM Cooper, JL Bradley, D Manners, P Styles, DJ Taylor, AHV Schapira
Proc Nat. Acad. Sci USA 1999;96:11492-11495

ATP production is severely decreased in patients with Friedreich ataxia (FRDA), according to this study.

ATP production was assessed by phosphorus magnetic resonance spectroscopy at rest, during exercise, and during recovery in 12 FRDA patients, 12 patients with other neuromuscular disease, and 18 healthy controls. Results showed that the maximum rate of mitochondrial ATP synthesis (Vmax) in FRDA patients was approximately one third that seen in other neuromuscular patients or controls. Vmax was inversely correlated with repeat length of the shorter FA allele.

The authors conclude, "Our findings demonstrate that the GAA triplet repeat expansion in FRDA is associated with a profound deficit in skeletal muscle mitochondrial ATP production and strongly support mitochondrial involvement in the pathogenesis of FRDA...Our findings provide a very strong rationale for treatments aimed to enhance mitochondrial function and reduce toxic radical production in these patients."

A Commentary by Jerry Kaplan accompanies the report.