Schaefer am(1), mcfarland r, blakely el, he l, whittaker rg, taylor rw, chinnery pf, turnbull dm. Author information (1)mitochondrial research group, school of neurology, neurobiology and psychiatry, newcastle university, newcastle upon tyne, united kingdom.
В mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases.
Several such genes have now been described (polg1,peo1,tk2,dgouk,mpv17,slc25a4, and rrm2b) and are associated with mitochondrial disease in adults and children. 25-27 other recessive nuclear mutations are known to affect structural subunits or assembly of mitochondrial respiratory chain complexes, and again these have not been included in our prevalence figures.
In this population, nuclear mutations were responsible for clinically overt adult mitochondrial disease in 2. Interpretation combined, our data confirm that the total prevalence of adult mitochondrial disease, including pathogenic mutations of both the mitochondrial and nuclear genomes (1 in 4,300), is among the commonest adult forms of inherited neurological disorders.
Consequently, the aim of this study was to accurately define the prevalence of mtdna disease (primary mutation occurs in mtdna) in the working-age population of the north east of england. Methods adults with suspected mitochondrial disease in the north east of england were referred to a single neurology center for investigation from 1990 to 2004.
The minimum point prevalence of clinically affected adults with mitochondrial disease attributable to either the mitochondrial or nuclear genome is 12. 1 10 5), whereas the prevalence of all pathogenic mutations in both ndna and mtdna is 23 in 100,000 (1 in 4,300 95 ci 14.).
Prevalence of mitochondrial dna disease in adults article in annals of neurology 63(1)35- with 779 reads how we measure reads.
Objective the aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease. Methods we prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in newcastle upon tyne between january 1, 2005 and january 1, 2008.
Does the prevalence of mitochondrial disease vary though out the world, and if so,. Combing the results of the epidemiological data on childhood and adult mitochondrial disease suggests that the minimum prevalence is at least 1 in 5000, and could be much higher.