Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

被引：74

作者：

Vorgerd, M

Schöls, L

Hardt, C

Ristow, M

Epplen, JT

Zange, J ^{[1
]}

机构：

[1] German Aerosp Ctr, Inst Aerosp Med, D-51170 Cologne, Germany

[2] Ruhr Univ Bochum, Kliniken Bergmannsheil, Dept Neurol, D-44789 Bochum, Germany

[3] Ruhr Univ Bochum, St Josef Hosp, Dept Neurol, D-44791 Bochum, Germany

[4] Ruhr Univ Bochum, Dept Human Mol Genet, D-44780 Bochum, Germany

[5] Harvard Univ, Sch Med, Joslin Diabet Ctr, Boston, MA 02215 USA

来源：

NEUROMUSCULAR DISORDERS | 2000年 / 10卷 / 06期

关键词：

Friedreich ataxia; skeletal muscle; oxidative phosphorylation; mitochondrial function; magnetic resonance spectroscopy;

D O I：

10.1016/S0960-8966(00)00108-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Friedreich ataxia occurs due to mutations in the gene encoding the mitochondrial protein frataxin. This P-31 magnetic resonance spectroscopy study on the calf muscle of Friedreich ataxia patients provides in vivo evidence of a seven impairment of mitochondrial function. Mitochondrial adenosine triphosphate resynthesis was studied by means of the post-exercise recovery of phosphocreatine. After ischemic exercise in calf muscles of all patients, phosphocreatine recovery was dramatically delayed. Time constants of recovery correlated with mutations of the frataxin gene, the age of the patients, and disease duration. P-31 magnetic resonance spectroscopy represents the first expedient tool for monitoring therapeutic trials in Friedreich ataxia non-invasively. (C) 2000 Elsevier Science B.V. All rights reserved.

引用

页码：430 / 435

页数：6

共 15 条

[11] Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia [J].