Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension

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) showe...

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Bibliographic Details
Published in:Mitochondrion 2011-11, Vol.11 (6), p.878-885
Main Authors: 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
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
DNA Polymerase gamma
DNA, Mitochondrial - chemistry
DNA, Mitochondrial - genetics
DNA-Directed DNA Polymerase - genetics
Family Health
Female
Genome, Mitochondrial
Humans
Hypertension - genetics
India
Male
Middle Aged
Point Mutation
Sequence Analysis, DNA
Sequence Deletion
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Summary: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 50bp deletion (m.298_347del50) in the hypervariable region II (HVSII) of all the individuals, who had a common maternal lineage. This (50bp) 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.
ISSN:1872-8278
DOI:10.1016/j.mito.2011.07.002