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

作者：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^*

来源：Mitochondrion, 2011, 11(6): 878-885.

DOI：10.1016/j.mito.2011.07.002

• Hypertension
• Type 2 diabetes
• Coronary artery disease
• Mutation
• mtDNA
• POLG

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 silica 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.

• 出版日期2011-11