August 1, 2000Annals of Neurology
The epidemiology of pathogenic mitochondrial DNA mutations
Authors
Discussion
Loading...
Member takes
Implication
Epidemiological study reveals a mitochondrial DNA mutation prevalence of 12.48 per 100,000 in adults and children, highlighting significant disease burden and counseling needs.
Key Points
- To determine the population prevalence and clinical spectrum of pathogenic mitochondrial DNA (mtDNA) mutations causing neurological disorders.
- Investigated adults with suspected mtDNA disease referred to a single neurology center over a 10-year period (1990–1999) in North East England to identify genetic defects.
- Calculated mid-1997 minimum point prevalence of mtDNA disease in working-age adults (>16 to <60 years for females, <65 years for males) and estimated the proportion of adults and children at risk of developing disease.
- Pathogenic mtDNA defects caused confirmed disease in 6.57 per 100,000 working-age adults.
- Unaffected individuals at risk of developing mtDNA disease represented 7.59 per 100,000 adults and children.
- Overall minimum prevalence of affected patients and at-risk carriers combined was 12.48 per 100,000 individuals across the general population.
Cite This Study
Chinnery et al. (2000) studied this question.