Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

01 September 2004

Enzymatic diagnosis of oxidative phosphorylation defects on muscle biopsy: Better on tissue homogenate or on a mitochondria-enriched suspension?

Jordi Casademont, Milagrosa Perea, Sonia Lopez, Anna Beato, Oscar Miro, Francesc Cardellach

Med Sci Monit 2004; 10(9): CS49-53 :: ID: 11751

Abstract

Background:The enzymatic analysis of mitochondrial respiratory chain (MRC) complexes of skeletal muscle is an important step in the diagnosis of mitochondrial disorders. Because of its lesser turbidity and increased sensitivity, mitochondrial fractionation has been increasingly considered the diagnostic method of choice compared with the more classical analysis of muscle homogenate. In circumstances in which mitochondria become abnormal in number, size or shape, the process of mitochondrial enrichment made by sequential centrifugation and washing may favor the selection of the most normal mitochondria, eliminating the most abnormal ones. In this situation, the study of muscle homogenate, paradoxically, may better reflect what happens in vivo.Case Report: To exemplify this situation we present a 60-year-old woman with a complete mitochondrial phenotype and a 70% heteroplasmic presence of the mtDNA A3243G mutation in muscle tissue. The respiratory and enzymatic activities from mitochondria-enriched muscle suspension were within normal control limits. In contrast, when muscle homogenate was studied, enzyme activities of complexes I, III, and V were found to be decreased.Conclusions: Although mitochondria-enriched muscle suspensions are usually more informative than muscle homogenates for studies of MRC, in some situations it may be necessary to study both to uncover the biochemical defect.

Keywords: Electron Transport Chain Complex Proteins - genetics, Biopsy, Brain - radiography, Cell Fractionation, DNA, Mitochondrial - analysis, Electron Transport, Electron Transport Chain Complex Proteins - metabolism, Mitochondria - ultrastructure, Mitochondrial Myopathies - physiopathology, Muscle, Skeletal - physiopathology, Oxidative Phosphorylation, Tissue Extracts - metabolism

Add Comment 0 Comments

Editorial

01 March 2024 : Editorial  

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia

Dinah V. Parums

DOI: 10.12659/MSM.944204

Med Sci Monit 2024; 30:e944204

0:00

In Press

18 Mar 2024 : Clinical Research  

Sexual Dysfunction in Women After Tibial Fracture: A Retrospective Comparative Study

Med Sci Monit In Press; DOI: 10.12659/MSM.944136  

0:00

21 Feb 2024 : Clinical Research  

Potential Value of HSP90α in Prognosis of Triple-Negative Breast Cancer

Med Sci Monit In Press; DOI: 10.12659/MSM.943049  

22 Feb 2024 : Review article  

Differentiation of Native Vertebral Osteomyelitis: A Comprehensive Review of Imaging Techniques and Future ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943168  

23 Feb 2024 : Clinical Research  

A Study of 60 Patients with Low Back Pain to Compare Outcomes Following Magnetotherapy, Ultrasound, Laser, ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943732  

Most Viewed Current Articles

16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750