| Protean phenotypic features of the A3243G mitochondrial DNA mutation. | |
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MedLine Citation:
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PMID: 19139304 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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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 |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Archives of neurology Volume: 66 ISSN: 1538-3687 ISO Abbreviation: Arch. Neurol. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-01-13 Completed Date: 2009-02-19 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 85-91 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA. pk88@columbia.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Cohort Studies DNA Mutational Analysis DNA, Mitochondrial / chemistry* Early Diagnosis Female Genetic Predisposition to Disease Genetic Testing Genotype Heterozygote Humans Inheritance Patterns MELAS Syndrome / diagnosis*, genetics* Male Middle Aged Mutation* Phenotype Questionnaires Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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1 UL1 RR024156/RR/NCRR NIH HHS; P01-HD32062/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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