Mitochondrial ATP6 and ND3 genes are associated with type 2 diabetic peripheral neuropathy.
Antioxidant status
Mitochondrial DNA content
Mitochondrial DNA mutation
Oxidative stress
Peripheral neuropathy
Type 2 diabetes
Journal
Diabetes & metabolic syndrome
ISSN: 1878-0334
Titre abrégé: Diabetes Metab Syndr
Pays: Netherlands
ID NLM: 101462250
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
03
12
2021
revised:
05
05
2022
accepted:
08
05
2022
pubmed:
26
5
2022
medline:
29
6
2022
entrez:
25
5
2022
Statut:
ppublish
Résumé
The association of mitochondrial NADH dehydrogenase gene mutations with type 2 diabetes in the Karaikudi population was previously reported. This is a case report that demonstrated rare mutations are responsible for maternally inherited peripheral neuropathy of diabetes. We describe a 70-year-old male and his family (n = 25) with type 2 diabetic peripheral neuropathy having four rare mutations, 8597T > C, 8699T > C, 8966T > C, 10188A > G, and 9 bp deletion in various regions of the mitochondrial genes. Mutations were identified through direct sequencing of DNA isolated from the blood of the selected individuals. Blood samples were also analyzed for glucose, hemoglobin A1c, triglyceride, total cholesterol, oxidative stress markers, antioxidant status, cytochrome-C-oxidase and mitochondrial DNA content using appropriate methods. Oxidative stress markers were found elevated while the antioxidant status, mitochondrial DNA content and the activity of cytochrome C-oxidase was reduced significantly. Analysis of mtDNA showed the presence of several mutations in various regions of mitochondrial genome. However, 8597T > C, 8699T > C, 8966T > C, 10188A > G, and 9 bp deletion were observed in the patient's family including his siblings. This study shows that the mutations observed in the patient and his family is maternally inherited and suspected to be pathogenic in developing T2D associated peripheral neuropathy.
Sections du résumé
BACKGROUND AND AIMS
OBJECTIVE
The association of mitochondrial NADH dehydrogenase gene mutations with type 2 diabetes in the Karaikudi population was previously reported. This is a case report that demonstrated rare mutations are responsible for maternally inherited peripheral neuropathy of diabetes.
METHODS
METHODS
We describe a 70-year-old male and his family (n = 25) with type 2 diabetic peripheral neuropathy having four rare mutations, 8597T > C, 8699T > C, 8966T > C, 10188A > G, and 9 bp deletion in various regions of the mitochondrial genes. Mutations were identified through direct sequencing of DNA isolated from the blood of the selected individuals. Blood samples were also analyzed for glucose, hemoglobin A1c, triglyceride, total cholesterol, oxidative stress markers, antioxidant status, cytochrome-C-oxidase and mitochondrial DNA content using appropriate methods.
RESULTS
RESULTS
Oxidative stress markers were found elevated while the antioxidant status, mitochondrial DNA content and the activity of cytochrome C-oxidase was reduced significantly. Analysis of mtDNA showed the presence of several mutations in various regions of mitochondrial genome. However, 8597T > C, 8699T > C, 8966T > C, 10188A > G, and 9 bp deletion were observed in the patient's family including his siblings.
CONCLUSION
CONCLUSIONS
This study shows that the mutations observed in the patient and his family is maternally inherited and suspected to be pathogenic in developing T2D associated peripheral neuropathy.
Identifiants
pubmed: 35613490
pii: S1871-4021(22)00115-1
doi: 10.1016/j.dsx.2022.102501
pii:
doi:
Substances chimiques
Antioxidants
0
DNA, Mitochondrial
0
Oxidoreductases
EC 1.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
102501Informations de copyright
Copyright © 2022 Diabetes India. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The author declares that there is no conflict of interest.