Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son

• Published in: Journal of medical genetics Vol. 40; no. 11; pp. 858 - 863
• Main Authors: Puoti, G, Carrara, F, Sampaolo, S, De Caro, M, Vincitorio, C M, Invernizzi, F, Zeviani, M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-11-2003; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Abnormalities; adenosine triphosphate; Adult; Age; Analysis; Ataxia; ATP; Biological and medical sciences; Biopsy; Care and treatment; Case studies; COX; creatine kinase; cytochrome c oxidase; Deoxyribonucleic acid; DNA; DNA, Mitochondrial - genetics; Female; Gene mutations; General aspects. Genetic counseling; Genetic aspects; Genetic research; Genetic testing; Health aspects; Hearing loss; Humans; Kearns-Sayre syndrome; Kearns-Sayre Syndrome - genetics; Kinases; KSS; large scale rearrangement; Letter to JMG; Male; Medical genetics; Medical sciences; Middle Aged; mitochondrial disease; Mitochondrial diseases; Mitochondrial DNA; Morphology; mtDNA; mtDNA deletion; Mutation; Nuclear Family; Patients; Pedigree; PEO; Phenotype; Phosphorylation; Physiological aspects; progressive external ophthalmoplegia; RCS; Recombination, Genetic - genetics; revised Cambridge sequence; Italy; Human; Eye disease; Mother; Cardiovascular disease; Metabolic diseases; Genetics; Mitochondrial DNA; Kearns Sayre syndrome; Enzymopathy
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.40.11.858

All these complexes, except complex II, which is entirely nucleus encoded, contain both nucleus and mitochondrion encoded subunits, and their biosynthesis also requires co-operation between the nuclear and mitochondrial genomes. Because of this dual genetic control, oxidative phosphorylation diseases can be due to mutations either in mitochondrial DNA (mtDNA) or nuclear DNA genes. [...]this attribution is completely arbitrary, because of the technical limitations of both methods. [...]in spite of the enormous number of observations and studies on mtDNA deletions that have been carried out by many research teams in the last 15 years, the frequency of partial deletions, partial duplications (or triplications 15 ), or of a combination of the two is virtually unknown in patients affected by mitochondrial disease.