Mitochondrial myopathy studies on permeabilized muscle fibers.

Abstract:

:Respiratory parameters of skeletal muscle were determined in permeabilized muscle fibers by adapting a technique described by Veksler et al. for cardiac fibers (Biochim Biophys Acta, 892:191-196, 1987). This method consists of the permeabilization of muscle fibers by saponin by allowing respiratory substrates and inhibitors to reach the mitochondria. In this way, the mitochondria may be studied inside the fibers as if they were isolated. We have verified, using various techniques, that the mitochondria remain intact during this procedure. This method has been applied to the study of six newborn infants for whom a diagnosis of a mitochondrial defect was suspected. In all cases, the defect was to be found on the permeabilized fibers, and this was confirmed by an enzymatic study. The advantage of this new method, associated with the measurement of the enzymatic activities on a crude homogenate, is to enable a simple and rapid diagnosis on a small amount of sample without damaging the mitochondria during the isolation procedure.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Letellier T,Malgat M,Coquet M,Moretto B,Parrot-Roulaud F,Mazat JP

doi

10.1203/00006450-199207000-00004

subject

Has Abstract

pub_date

1992-07-01 00:00:00

pages

17-22

issue

1

eissn

0031-3998

issn

1530-0447

journal_volume

32

pub_type

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