Elango, Santhini ; Govindaraj, Periyasamy ; Vishwanadha, Vijaya Padma ; Reddy, Alla Govardhana ; Tamang, Rakesh ; Muthusami, Uthiralingam ; Kunnoth, Sreejith ; Koyilil, Vijaya Kumar ; Lakshman, MohanaKrishnan ; Shanmugasundharam, N. ; Singh, Lalji ; Thangaraj, Kumarasamy (2011) Analysis of mitochondrial genome revealed a rare 50bp deletion and substitutions in a family with hypertension Mitochondrion, 11 (6). pp. 878-885. ISSN 1567-7249
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Official URL: http://www.sciencedirect.com/science/article/pii/S...
Related URL: http://dx.doi.org/10.1016/j.mito.2011.07.002
Abstract
We have sequenced the complete mtDNA of a family with Hypertension (HT), Type 2 Diabetes (T2D) and Coronary Artery Disease (CAD). Our analysis revealed two novel mutations (C3519T, G13204A); of which G13204A replaces valine to isoleucine. In silico analysis of a rare missense mutation (T8597C) showed a deleterious effect. We also observed a 50 bp deletion (m.298_347del50) in the hypervariable region II (HVSII) of all the individuals, who had a common maternal lineage. This (50 bp) deletion was not found in 17,785 individuals from different ethnic populations of India or in a variety of different disease phenotypes. We predict that the mtDNA mutations might be responsible for the HT. Analysis of POLG (polymerase gamma) gene revealed 14 variants which might be responsible for some of the mtDNA mutations seen in this family.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| Keywords: | Hypertension; Type 2 Diabetes; Coronary Artery Disease; Mutation; mtDNA; POLG |
| ID Code: | 107722 |
| Deposited On: | 17 Jul 2017 06:36 |
| Last Modified: | 17 Jul 2017 06:36 |
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