Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

Abstract

Six patients in two unrelated families from the eastern Arabian peninsula presented with childhood-onset progressive external ophthalmoplegia (PEO), mild facial and proximal limb weakness, and severe cardiomyopathy requiring cardiac transplantation. Muscle biopsies showed ragged-red and cytochrome c oxidase-negative fibers. The activities of several complexes in the electron-transport chain were decreased and Southern blot analysis showed multiple mtDNA deletions. The apparent autosomal-recessive inheritance and the association with cardiomyopathy distinguish this syndrome from autosomal-dominant PEO with multiple mtDNA deletions. The combination of autosomal-recessive PEO, cardiomyopathy, and multiple mtDNA deletions appears to be another disease due to a defect of communication between the nuclear and mitochondrial genomes.

• Authors: S Bohlega, K Tanji, F M Santorelli, M Hirano, A al-Jishi, S DiMauro
• Journal: Neurology (Neurology) Vol. 46 Issue 5 Pg. 1329-34 (May 1996) ISSN: 0028-3878 [Print] United States
• PMID: 8628476 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA, Mitochondrial
• Oligonucleotide Probes
• Electron Transport Complex IV

Topics

• Adolescent
• Adult
• Arabs
• Blotting, Southern
• Brain (pathology)
• Cardiomyopathies (genetics, pathology, physiopathology)
• Cytochrome-c Oxidase Deficiency
• DNA, Mitochondrial (chemistry, genetics)
• Electrocardiography
• Electromyography
• Electron Transport Complex IV (genetics)
• Female
• Genes, Recessive
• Heart Transplantation
• Humans
• Magnetic Resonance Imaging
• Male
• Mitochondria, Muscle (metabolism)
• Muscle Fibers, Fast-Twitch (enzymology, pathology)
• Muscle, Skeletal (enzymology, pathology)
• Oligonucleotide Probes
• Ophthalmoplegia (genetics, pathology, physiopathology)
• Pedigree
• Polymerase Chain Reaction
• Sequence Deletion