Protean phenotypic features of the A3243G mitochondrial DNA mutation

Petra Kaufmann, Kristin Engelstad, Ying Wei, Romana Kulikova, Maryam Oskoui, Vanessa Battista, Dorcas Y. Koenigsberger, Juan M. Pascual, Mary Sano, Michio Hirano, Salvatore DiMauro, Dikoma C. Shungu, Xiangling Mao, Darryl C. De Vivo

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


Objective: To describe the spectrum of clinical symptoms, signs, and laboratory features associated with A3243G, a mitochondrial DNA point mutation that affects multiple organs with varying severity, making the diagnosis and treatment of these patients complex. Design: Cohort study. Setting: Columbia University Medical Center. Participants: A cohort of 123 matrilineal relatives from 45 families, including 45 fully symptomatic patients with mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (syndrome), 78 carrier relatives, and 30 controls. Main Outcome Measures: Data gathered from standardized medical history questionnaires, neurological and ophthalmological examination forms, and laboratory tests. We compared data between 3 groups. Results: Mutation carriers' clinical and laboratory results frequently had many abnormalities. In addition to neurological symptoms, they often had cardiac, endocrine, gastrointestinal, and psychiatric symptoms. Conclusions: The A3243G mutation carriers have multiple medical problems, suggesting that the A3243G mutation should be considered as an etiological factor in patients with multisystem clinical presentations or a family history compatible with matrilineal inheritance. Because some medical problems affecting A3243G mutation carriers are treatable, early detection and proactive management may mitigate the burden of morbidity.

Original languageEnglish (US)
Pages (from-to)85-91
Number of pages7
JournalArchives of neurology
Issue number1
StatePublished - Jan 2009

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology


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