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. 2009 Jan;66(1):85-91.
doi: 10.1001/archneurol.2008.526.

Protean phenotypic features of the A3243G mitochondrial DNA mutation

Petra Kaufmann  1 , 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
Affiliations

Protean phenotypic features of the A3243G mitochondrial DNA mutation

Petra Kaufmann et al. Arch Neurol. 2009 Jan.

Abstract

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.

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