Year: 2010
Type: article
Study design: Observational Study
Abstract: BACKGROUND: The m.3243A>G mutation can cause multisystem medical problems and can affect the autonomic nervous system. OBJECTIVE: To study the frequency and spectrum of autonomic symptoms associated with the m.3243A>G mitochondrial DNA point mutation. Design, Setting, and Patients We studied a cohort of 88 matrilineal relatives from 40 families, including 35 fully symptomatic patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), 53 carrier relatives, and 16 controls using a questionnaire based on existing standard instruments for the evaluation of autonomic dysfunction. We compared the questionnaire with an expert evaluation. We compared data among the 3 groups using the Mantel-Haenszel chi(2) test to determine the statistical significance of differences between groups. RESULTS: Mutation carriers frequently had symptoms of autonomic dysfunction, specifically gastrointestinal and orthostatic intolerance. CONCLUSIONS: Carriers of the m.3243A>G mutation have frequent autonomic symptoms. The m.3243A>G mutation should be considered as an etiological factor in patients with autonomic dysfunction and a medical or family history suggestive of mitochondrial disease. Because some autonomic symptoms are treatable, early detection and proactive management may mitigate the burden of morbidity.
Source: Archives of Neurology
Institution: Columbia University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Awards: Clinical and Translational Science Award, CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE, Molecular Pathogenesis of Coenzyme Q10 Deficiency, Mitochondrial Encephalomyopathies and Mental Retardation, MITOCHONDRIAL ENCEPHALOMYOPATHIES: APPROACHES TO TREATMENT, G74925636, DEVELOPING A NORTH AMERICAN MITOCHONDRIAL DISEASE CONSORTIUM (NAMDC)
OpenAlex ID: W1984528746