Format

Send to

Choose Destination
Clin Chim Acta. 1994 Jul;228(1):35-51.

Biochemical and molecular investigations in respiratory chain deficiencies.

Author information

1
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, Paris, France.

Abstract

This paper describes our present strategy for the investigation of respiratory chain disorders in humans. Because very few of the underlying mutations causing mitochondrial disorders in humans are currently known, biochemical studies constitute a major tool in screening procedures for respiratory chain deficiencies. All biochemical and molecular methods described are scaled-down methods, allowing investigation in both adults and young children. Polarographic studies and/or spectrophotometric studies on whole cells (circulating lymphocytes), isolated mitochondria (skeletal muscle) and tissue homogenates are presented. Advantages and limitations of each approach, as well as useful parameters for the characterization of defects and comparison between various tissues are discussed.

PMID:
7955428
DOI:
10.1016/0009-8981(94)90055-8
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center