Molecular genetic analysis of type II diabetes associated m. 3243A >G mitochondrial DNA mutation in a Pakistani family
Joint Authors
Abrar, Saidul
Muhammad, Khushi
Zaman, Hasanayn
Khan, Sulayman
Nouroz, Faysal
Bibi, Nousheen
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 3 (31 Jul. 2017), pp.305-308, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-07-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Background: Type II diabetes is the most often considered as maternally inherited disease and A>G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the encoding tRNALeu (UUR) gene is thought to be strongly responsible for the pathogenesis of the disease in number of cases.
Aim: Current study was conducted to investigate the family prevalence of m.3243A>G mutation in a Pakistani family with the context of insulin sensitivity and B-cell function.
Subject and method This study was carried out in 6 suspected diabetic members of a Pakistani family.
Mitochondrial DNA was extracted from saliva and after polymerase chain reaction, amplified DNA was subjected to direct sequencing.
Results and conclusion: Sequencing results revealed absence of most common mtDNA m.3243A>G mutation in 6 subjects with devotedly congenital mitochondrial diabetes phenotype.
Conclusively, the m.3243A>G mutation in mitochondrial tRNALeu gene was not found to be a frequent cause of Type II diabetes mellitus in a Pakistani (haripur) family.
Our finding suggests that there might be some underlying genetic cause for Type II diabetes mellitus in the subjects under study.
American Psychological Association (APA)
Abrar, Saidul& Muhammad, Khushi& Zaman, Hasanayn& Khan, Sulayman& Nouroz, Faysal& Bibi, Nousheen. 2017. Molecular genetic analysis of type II diabetes associated m. 3243A >G mitochondrial DNA mutation in a Pakistani family. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 3, pp.305-308.
https://search.emarefa.net/detail/BIM-760016
Modern Language Association (MLA)
Abrar, Saidul…[et al.]. Molecular genetic analysis of type II diabetes associated m. 3243A >G mitochondrial DNA mutation in a Pakistani family. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 3 (Jul. 2017), pp.305-308.
https://search.emarefa.net/detail/BIM-760016
American Medical Association (AMA)
Abrar, Saidul& Muhammad, Khushi& Zaman, Hasanayn& Khan, Sulayman& Nouroz, Faysal& Bibi, Nousheen. Molecular genetic analysis of type II diabetes associated m. 3243A >G mitochondrial DNA mutation in a Pakistani family. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 3, pp.305-308.
https://search.emarefa.net/detail/BIM-760016
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 307-308
Record ID
BIM-760016