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.
Adult
DNA, Mitochondrial
/ genetics
Deafness
/ genetics
Diabetes Mellitus, Type 2
/ genetics
Female
Hearing Loss, Sensorineural
Heteroplasmy
Humans
Kidney Failure, Chronic
/ genetics
Kidney Transplantation
Leukocyte Count
Mitochondrial Diseases
/ genetics
Mutation
/ genetics
Pedigree
Renal Replacement Therapy
Twins, Monozygotic
Heteroplasmy
Maternally inherited diabetes and deafness
Mitochondrial disease
Renal replacement therapy
mt.3243A>G
Journal
Nephron
ISSN: 2235-3186
Titre abrégé: Nephron
Pays: Switzerland
ID NLM: 0331777
Informations de publication
Date de publication:
2020
2020
Historique:
received:
04
11
2019
accepted:
05
04
2020
pubmed:
21
5
2020
medline:
25
8
2021
entrez:
21
5
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32434190
pii: 000507732
doi: 10.1159/000507732
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
358-362Informations de copyright
© 2020 S. Karger AG, Basel.