Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions

Moslemi, Ali-Reza; Melberg, Atle; Holme, Elisabeth; Oldfors, Anders

doi:10.1212/wnl.53.1.79

Cited by 61Mitochondrial Function and PathologyParkinson's Disease Mechanisms and TreatmentsMetabolism and Genetic Disorders

Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions

Moslemi, Ali-Reza, Melberg, Atle, Holme, Elisabeth, Oldfors, Anders·1999·Neurology

DOI 10.1212/wnl.53.1.79

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Abstract

OBJECTIVE: To relate signs and symptoms to morphologic changes and presence of multiple mitochondrial DNA (mtDNA) deletions in a patient with autosomal dominant progressive external ophthalmoplegia (adPEO) and mitochondrial myopathy. BACKGROUND: An etiologic association between the somatic multiple mtDNA deletions in adPEO and clinical manifestations other than the myopathy has so far not been demonstrated. METHODS: The authors investigated a patient with adPEO and multiorgan system manifestations including levodopa-responsive parkinsonism. She died at age 61 years of pancreatic carcinoma. Autopsy tissue specimens were investigated for morphologic alterations and occurrence of mtDNA deletions by Southern blot and long-extension PCR analyses. RESULTS: The patient had carcinoma of the pancreas with metastases to liver, lymph nodes, and bone marrow. The brain revealed slight gliosis of the gray and white matter and degeneration of the substantia nigra. The myocardium showed focal areas with loss and atrophy of myocytes and fibrosis. Analysis of mtDNA revealed multiple deletions in different regions of the brain, skeletal muscle, and myocardium. Twenty-five different mtDNA deletions were identified. Most of these were flanked by large direct-sequence repeats. Six identical deletions were found in muscle and brain. CONCLUSIONS: These findings indicate that somatic multiple mtDNA deletions are associated with degenerative tissue changes and clinical manifestations in adPEO.

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Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA
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Authors: Moslemi, A.-R., Melberg, A., Holme, E., & Oldfors, A.
Affiliations: Uppsala University Hospital (SE)
ORCID: Oldfors, Anders
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 1999-07
Volume: 53
Issue: 1
Pages: 79-79
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/wnl.53.1.79
OpenAlex: W2015149058
Cited by: 61
References: 46
Citations by year: 2021: 1 · 2020: 2 · 2018: 2 · 2017: 1 · 2016: 2 · 2015: 3 · 2014: 1 · 2013: 4 · 2012: 2
FWCI: 1.71
Type: journal article
Language: en
Open access: closed
Locations: Neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: mitochondrial DNA deletions, mitochondrial myopathy, levodopa-responsive parkinsonism, pancreatic cancer, substantia nigra degeneration, myocardial fibrosis, gliosis, somatic mtDNA mutations
MeSH terms: Antiparkinson Agents, Brain, Cerebral Cortex, DNA, Mitochondrial, Female, Genes, Dominant, Humans, Levodopa, Middle Aged, Parkinson Disease, Repetitive Sequences, Nucleic Acid, Ophthalmoplegia, Chronic Progressive External, Sequence Deletion, Muscle, Skeletal

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Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions

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