| Autor: |
Saidul Abrar, Khushi Muhammad, Hasnain Zaman, Suleman Khan, Faisal Nouroz, Nousheen Bibi |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 305-308 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
1110-8630 |
| DOI: |
10.1016/j.ejmhg.2016.12.001 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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