title: Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension.
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 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.
authors.affiliation: Department of Biotechnology, School of Biotechnology and Genetic Engineering, Bharathiar University, Coimbatore, India.
authors.forename: Santhini
authors.initials: S
authors.lastname: Elango
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.forename: Vijaya Padma
authors.initials: VP
authors.lastname: Vishwanadha
authors.forename: Alla Govardhana
authors.initials: AG
authors.lastname: Reddy
authors.forename: Rakesh
authors.initials: R
authors.lastname: Tamang
authors.forename: Uthiralingam
authors.initials: U
authors.lastname: Muthusami
authors.forename: Sreejith
authors.initials: S
authors.lastname: Kunnoth
authors.forename: Vijaya Kumar
authors.initials: VK
authors.lastname: Koyilil
authors.forename: Mohanakrishnan
authors.initials: M
authors.lastname: Lakshman
authors.forename: N
authors.initials: N
authors.lastname: Shanmugasundharam
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D005192:Family Health; D005260:Female; D054629:Genome, Mitochondrial; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007194:India; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human