PMID: 9425106Feb 28, 1998Paper

Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

The Biochemical Journal
D ChretienP Rustin

Abstract

It is now widely acknowledged that a large number of human diseases originate from respiratory-chain dysfunctions. Because the molecular bases of these diseases are still poorly known, a biochemical approach has to be used in the screening procedures for the diagnoses of these conditions. Assessment of respiratory-chain function in human samples faces several problems: (i) the small size of available samples, (ii) the determination of discriminating parameters, and (iii) the interfering factors, such as age and physical activity. The present study focuses on isolated mitochondria prepared from a minute amount (100-200 mg) of skeletal-muscle biopsies from 201 patients between 0 and 65 years. Whereas 42 patients presented an isolated complex (C)I, CII, CIII or CIV deficiency, no respiratory-chain dysfunction or indirect evidence for a mitochondrial disorder could be attested in 159 of these patients. In this reference group, there was little correlation between enzyme activities and age, whatever the age class considered, 0-3 or 0-65 years of age. However, a confident handling of data points was largely hampered by the marked scattering of enzyme activities measured in the reference population. Activity ratios between the various...Continue Reading

Citations

Aug 14, 1999·Journal of Internal Medicine·C GraffN G Larsson
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Nov 8, 2001·Free Radical Research·V GeromelP Rustin
Oct 14, 2010·Journal of Inherited Metabolic Disease·Anu Suomalainen
Feb 2, 2013·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·Robert A JacobsCarsten Lundby
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