Clinical spectrum of the MELAS mutation in a large pedigree
| Autor: | Walter Schachenmayr, H. Laube, Maxwell S. Damian, Georg Bachmann, Peter Seibel, W. Dorndorf, Heinz Reichmann, K. H. Wassill |
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| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty Mitochondrial DNA Biopsy Hearing Loss Sensorineural Mitochondrial disease Biology MELAS syndrome DNA Mitochondrial Diabetes Complications Mitochondrial myopathy MELAS Syndrome medicine Humans Point Mutation Myopathy Genome Muscle biopsy medicine.diagnostic_test Muscles Point mutation Brain General Medicine Prognosis medicine.disease Pedigree Phenotype Neurology Mutagenesis Kidney Diseases Neurology (clinical) medicine.symptom Cardiomyopathies |
| Zdroj: | Acta Neurologica Scandinavica. 92:409-415 |
| ISSN: | 1600-0404 0001-6314 |
| Popis: | Introduction - MELAS is most often due to an maternally transmitted A-G transition mutation of mitochondrial DNA (mt DNA) at position 3243. In this study we report on the clinical spectrum associated with the mutation in the largest family reported so far. Patients and methods - In a family with three MELAS cases we identified 47 persons at risk for the mutation ; sufficient data was available on 29. Mitochondrial disease was diagnosed in two of 9 deceased members (posthumous molecular analysis in one) ; 27 surviving family members underwent examination and 25 a molecular analysis of mt DNA from lymphoblasts. Then had a muscle biopsy and two were later autopsied. Results - All 26 cases investigated by molecular analysis showed the mutation at position 3243. The 18 symptomatic patients without stroke-like episodes had sensorineural hearing loss in 15 cases, diabetes in 6, nephropathy in 7, mild myopathy in 4, cardiomyopathy in 2, cerebellar disease in 4 and mental retardation in 2 cases. Eight carriers were asymptomatic. Autopsy showed > 80% mutant mt DNA in all tissues except blood (20%) examined in a MELAS patient, but |
| Databáze: | OpenAIRE |
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