Mitochondrial Encephalomyopathies: Clinical and Molecular Analysis

Overview

Journal J Bioenerg Biomembr

Publisher Springer

Specialties Biochemistry
Biology
Endocrinology

Date 1994 Jun 1

PMID 8077182

Citations 17

Authors

E A Schon

M Hirano

S DiMauro

Affiliations

Soon will be listed here.

Abstract

The classification of mitochondrial encephalomyopathies relied upon clinical, biochemical, and histological features until the discovery of mitochondrial DNA defects in 1988. Since then, an outburst of molecular genetic information has aided our understanding of the pathogenesis and the classification of these heterogeneous disorders. Novel concepts of maternal inheritance, mitochondrial DNA (mtDNA) heteroplasmy, tissue distribution, and threshold have explained many of the clinical characteristics. The discovery of point mutations, large-scale mtDNA deletions, duplications, and autosomally inherited disorders with multiple mtDNA deletions have revealed new genetic phenomena. Despite our rapidly expanding understanding of the molecular genetic defects, many questions remain to be explored to fill the gap in our knowledge of the relationship between genotype and clinical phenotype.

Citing Articles

Kearns-Sayre syndrome with a novel large-scale deletion: a case report.

Zhu Q, Chen C, Yao J BMC Ophthalmol. 2022; 22(1):35.

PMID: 35073857 PMC: 8785533. DOI: 10.1186/s12886-021-02224-7.

The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study.

Alban C, Fatale E, Joulani A, Ilin P, Saada A J Clin Med. 2017; 6(3).

PMID: 28287425 PMC: 5373000. DOI: 10.3390/jcm6030031.

Epigenetics, epidemiology and mitochondrial DNA diseases.

Chinnery P, Elliott H, Hudson G, Samuels D, Relton C Int J Epidemiol. 2012; 41(1):177-87.

PMID: 22287136 PMC: 3304530. DOI: 10.1093/ije/dyr232.

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

Da Pozzo P, Cardaioli E, Malfatti E, Gallus G, Malandrini A, Gaudiano C Eur J Hum Genet. 2009; 17(8):1092-6.

PMID: 19223931 PMC: 2986557. DOI: 10.1038/ejhg.2009.12.

Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers.

Bua E, Johnson J, Herbst A, Delong B, McKenzie D, Salamat S Am J Hum Genet. 2006; 79(3):469-80.

PMID: 16909385 PMC: 1559550. DOI: 10.1086/507132.

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