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

558 172

Editorial

01 June 2023 : Editorial  

Editorial: Infectious Disease Surveillance Using Artificial Intelligence (AI) and its Role in Epidemic and Pandemic Preparedness

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.941209

Med Sci Monit 2023; 29:e941209

0:00

In Press

08 Jun 2023 : Clinical Research  

Risk Factors for New Vertebral Compression Fracture After Percutaneous Vertebral Augmentation: A Retrospect...

Med Sci Monit In Press; DOI: 10.12659/MSM.940134  

08 Jun 2023 : Clinical Research  

A Nomogram for Identifying HR+/Her2- Breast Cancer Patients with Positive Sentinel Lymph Nodes and Omitted ...

Med Sci Monit In Press; DOI: 10.12659/MSM.940124  

08 Jun 2023 : Clinical Research  

Burden of COVID-19 on Mental Health of Resident Doctors in Poland

Med Sci Monit In Press; DOI: 10.12659/MSM.940208  

08 Jun 2023 : Clinical Research  

Risk Prediction for Rapidly Progressive Interstitial Lung Disease in Anti-MDA5-Positive Dermatomyositis: Th...

Med Sci Monit In Press; DOI: 10.12659/MSM.940251  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788

0:00

30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379

08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292

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

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