Increased Peripheral Blood Heteroplasmy of the mt.3243A>G Mutation Is Associated with Earlier End-Stage Kidney Disease: A Case Report and Review of the Literature.
The mitochondrial DNA mutation mt.3243A>G is most commonly associated with maternally inherited diabetes and deafness (MIM 52,000), but it has protean phenotypes including renal disease due to focal segmental glomerulosclerosis. We describe monozygotic twins who both harboured this mutation and developed ESRD. Although otherwise genetically identical, the twins differed in their peripheral blood leucocyte levels of circulating mt.3243A>G heteroplasmy: 20 versus 10%, when assessed at 42 years of age. The twin with the higher heteroplasmy load developed end-stage kidney disease 15 years earlier than her sister. A review of the published literature supports a relationship between heteroplasmy level and the age at the development of the end stage of renal failure in patients with mt.3243A>G-related kidney disease.
['Shand|James A D|JAD|', 'Potter|Howard C|HC|', 'Pilmore|Helen L|HL|', 'Cundy|Tim|T|', 'Murphy|Rinki|R|']
D000328:Adult D004272:DNA, Mitochondrial D003638:Deafness D003924:Diabetes Mellitus, Type 2 D005260:Female D006319:Hearing Loss, Sensorineural D000081942:Heteroplasmy D006801:Humans D007676:Kidney Failure, Chronic D016030:Kidney Transplantation D007958:Leukocyte Count D028361:Mitochondrial Diseases D009154:Mutation D010375:Pedigree D017582:Renal Replacement Therapy D014430:Twins, Monozygotic
Heteroplasmy mt.3243A>G Maternally inherited diabetes and deafness Mitochondrial disease Renal replacement therapy