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.
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.
Authors: Nigel F Delaney; Rohit Sharma; Laura Tadvalkar; Clary B Clish; Ronald G Haller; Vamsi K Mootha Journal: Proc Natl Acad Sci U S A Date: 2017-07-17 Impact factor: 11.205
Authors: Karien Esterhuizen; J Zander Lindeque; Shayne Mason; Francois H van der Westhuizen; Richard J Rodenburg; Paul de Laat; Jan A M Smeitink; Mirian C H Janssen; Roan Louw Journal: Metabolomics Date: 2021-01-12 Impact factor: 4.290
Authors: Kristin Engelstad; Miriam Sklerov; Joshua Kriger; Alexandra Sanford; Johnston Grier; Daniel Ash; Dieter Egli; Salvatore DiMauro; John L P Thompson; Mark V Sauer; Michio Hirano Journal: Hum Reprod Date: 2016-03-02 Impact factor: 6.918