Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G
نویسندگان
چکیده
منابع مشابه
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
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 mito...
متن کاملCardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G
BACKGROUND Tissues that depend on aerobic energy metabolism suffer most in diseases caused by mutations in mitochondrial DNA (mtDNA). Cardiac abnormalities have been described in many cases, but their frequency and clinical spectrum among patients with mtDNA mutations is unknown. METHODS Thirty-nine patients with the 3243A>G mtDNA mutation were examined, methods used included clinical evaluat...
متن کاملMuscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.
BACKGROUND Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling. OBJECTIVE To investigate the relationship between the muscle and blood mitochondrial DNA mutation load and phenotype. DESIGN Survey. SETTING The Neuromuscular Research Unit, Rigshospitalet, Copenhagen, Denm...
متن کاملDepletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.
BACKGROUND The 3243A-->G MTTL1 mutation is the most common heteroplasmic mitochondrial DNA (mtDNA) mutation associated with disease. Previous studies have shown that the percentage of mutated mtDNA decreases in blood as patients get older, but the mechanisms behind this remain unclear. OBJECTIVES AND METHOD To understand the dynamics of the process and the underlying mechanisms, an accurate f...
متن کاملPrevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA.
BACKGROUND AND PURPOSE Over the last three decades mitochondrial dysfunction has been postulated to be a potential mechanism in migraine pathogenesis. The lifetime prevalence of migraine in persons carrying the 3243A>G mutation in mitochondrial DNA was investigated. METHODS In this cross-sectional study, 57 mDNA 3243A>G mutation carriers between May 2012 and October 2014 were included. As a c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2001
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200550