title: Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
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.
authors.affiliation: Department of Neurology, Columbia University, 710 W 168th St, New York, NY 10032, USA.
authors.forename: Timothy
authors.initials: T
authors.lastname: Parsons
authors.forename: Louis
authors.initials: L
authors.lastname: Weimer
authors.forename: Kristin
authors.initials: K
authors.lastname: Engelstad
authors.forename: Alex
authors.initials: A
authors.lastname: Linker
authors.forename: Vanessa
authors.initials: V
authors.lastname: Battista
authors.forename: Ying
authors.initials: Y
authors.lastname: Wei
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001342:Autonomic Nervous System Diseases / Q000209:etiology / Q000235:genetics*; D016009:Chi-Square Distribution; D002648:Child; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial