The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome
Abstract
We have performed morphologic and biochemical studies in three pediatric cases of Kearns-Sayre syndrome. All cases had heteroplasmy with a high percentage of mitochondrial DNA (mtDNA) with deletion in muscle. The deletions were mapped to the same region of mtDNA but were of different sizes. The same type of deletion could also be detected in fibroblasts from all cases but the percentage was considerably lower. In two cases, an increase with time of the mutated mtDNA fraction in muscle was found and this increase paralleled the progression of the disease. Oximetric evaluation of respiratory-chain function in isolated muscle mitochondria showed a complex I deficiency in one case and was normal in the two other cases. Comparison of the fractional concentration of mtDNA with deletion in muscle and isolated mitochondria showed that the isolated mitochondria were not representative of the mitochondrial population in muscle. Mitochondria with high percentage of mtDNA with deletion were selectively lost. The finding of different mitochondrial populations is in good agreement with the morphology. One case spontaneously recovered from an infantile sideroblastic anemia before the development of Kearns-Sayre syndrome. The anemia was of the same type as that in Pearson's syndrome, a mitochondrial disorder with high amounts of mtDNA with deletion in blood cells. These findings indicate that the phenotype of a mtDNA deletion disorder can change with time and is governed by the fractional co…
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“These tissue-specific knockout animals reproduce important pathophysiological features found in human patients with mitochondrial myopathy, i.e., RRFs with COX deficiency (1), accumulation of abnormally appearing mitochondria (23), and progressively deteriorating respiratory chain function in skeletal muscle (24,25).”
From Increased mitochondrial mass in mitochondrial myopathy mice (2002) · cites this paper as [24]
Citations
Cites
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
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Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., & Marsh, J. C. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80286-3 · Cited by 440
Redesigning Trypsin: Alteration of Substrate Specificity
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MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
Rötig, A., Colonna, M., Bonnefont, J., Blanche, S., Fischer, A., Saudubray, J., & Münnich, A. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92897-3 · Cited by 260
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome
Moraes, C. T., Schon, E. A., DiMauro, S., & Miranda, A. F. (1989) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(89)92499-6 · Cited by 95
Cytochromec oxidase deficiency in infancy
Oldfors, A., Sommerland, H., Holme, E., Tulinius, M., & KRISTIANSSON, B. (1989) · Acta Neuropathologica · doi:10.1007/bf00687578 · Cited by 40
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Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?
Wallace, D. C. (1992) · Science · doi:10.1126/science.1533953 · Cited by 1,262
The Inheritance of Genes in Mitochondria and Chloroplasts: Laws, Mechanisms, and Models
Birky, C. W. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.090231 · Cited by 810
Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G., & Attardi, G. M. (1999) · Science · doi:10.1126/science.286.5440.774 · Cited by 724
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
“Clonal expansion refers to the preferential ampli fi cation of mtDNA mutations to a high level in post-mitotic tissues [64,65].”
BackgroundA pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.
Cortopassi, G. A., Shibata, D. K., Soong, N.-W., & Arnheim, N. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.16.7370 · Cited by 639
Metadata
- Authors
- Larsson, N.-G., Holme, E., Kristiansson, B., Oldfors, A., & Tulinius, M.
- Affiliations
- Sahlgrenska University Hospital (SE)
- Venue
- Pediatric Research
- Published
- 1990-08
- Volume
- 28
- Issue
- 2
- Pages
- 131-136
- ISSN
- 0031-3998 (ISSN-L)
- 1530-0447
- OpenAlex
- W2022312470
- Cited by
- 324
- References
- 6
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 9 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 8 · 2019: 4 · 2018: 6 · 2017: 6 · 2016: 2 · 2015: 3 · 2014: 10 · 2013: 7 · 2012: 4
- FWCI
- 6.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Pediatric Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Bernadotte Foundation For Children’s Eyecare
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Kearns-Sayre syndrome, mitochondrial DNA deletions, heteroplasmy, muscle mitochondria, disease progression, Pearson syndrome, fibroblasts
- MeSH terms
- Adolescent, Adult, Bone Marrow, Chromosome Deletion, Chromosome Mapping, DNA, Mitochondrial, Female, Humans, Kearns-Sayre Syndrome, Male, Mitochondria, Muscle, Mutation, Ophthalmoplegia, Time Factors
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