Analysis of mitochondrial DNA variations in Indian patients with congenital cataract

Mascarenhas Roshan, Shama Prasada Kabekkodu, Pai H. Vijaya, Kamath Manjunath, Jochen Graw, PM Gopinath, Kapeattu Satyamoorthy

    Research output: Contribution to journalArticle

    7 Citations (Scopus)

    Abstract

    Purpose: Identification of mitochondrial DNA (mtDNA) variations in the inherited cataract patients from south India. Methods: Three families with inherited cataract of maternal origin were evaluated. Clinical and ophthalmologic examinations were performed on available affected as well as unaffected family members. Samples of mtDNA were amplified using 24 pairs of overlapping primers to analyze the entire mitochondrial genome to screen for variations and analyzed for both coding and non-coding regions. Bioinformatic analysis was performed to evaluate the effect of nucleotide variations. Results: DNA sequence analysis of inherited cataract families showed 72 nucleotide variations, of which 15 were observed in the major non-coding D-loop region, 3 in the tRNA genes, 5 in the rRNA genes, and 49 in the protein coding region. Among these variations 56 were reported previously and 16 were novel of which, 12 synonymous substitutions, 2 nonsynonymous substitutions along with a frameshift mutation, and one was in the non-coding region. Nicotinamide adenine dinucleotide dehydrogenase (NADH) subunit (ND) gene of mtDNA was highly altered, in general, and found to contain 4 variations specific for cataract patients of the first family, six for the second, and one for the third family. Conclusions: Seventy-two variations were observed in three inherited cataract families. Four variations were specific for cataract patients of the first family, six for the second, and one for the third family. This is perhaps the first report on the presence of mitochondrial mutations in inherited cataracts.

    Original languageEnglish
    Pages (from-to)181-193
    Number of pages13
    JournalMolecular Vision
    Volume18
    Publication statusPublished - 2012

    Fingerprint

    Mitochondrial DNA
    Cataract
    Nucleotides
    Frameshift Mutation
    Mitochondrial Genome
    Transfer RNA
    Computational Biology
    DNA Sequence Analysis
    rRNA Genes
    NAD
    Open Reading Frames
    Genes
    India
    Oxidoreductases
    Mothers
    Mutation

    All Science Journal Classification (ASJC) codes

    • Ophthalmology

    Cite this

    Roshan, Mascarenhas ; Prasada Kabekkodu, Shama ; Vijaya, Pai H. ; Manjunath, Kamath ; Graw, Jochen ; Gopinath, PM ; Satyamoorthy, Kapeattu. / Analysis of mitochondrial DNA variations in Indian patients with congenital cataract. In: Molecular Vision. 2012 ; Vol. 18. pp. 181-193.
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    abstract = "Purpose: Identification of mitochondrial DNA (mtDNA) variations in the inherited cataract patients from south India. Methods: Three families with inherited cataract of maternal origin were evaluated. Clinical and ophthalmologic examinations were performed on available affected as well as unaffected family members. Samples of mtDNA were amplified using 24 pairs of overlapping primers to analyze the entire mitochondrial genome to screen for variations and analyzed for both coding and non-coding regions. Bioinformatic analysis was performed to evaluate the effect of nucleotide variations. Results: DNA sequence analysis of inherited cataract families showed 72 nucleotide variations, of which 15 were observed in the major non-coding D-loop region, 3 in the tRNA genes, 5 in the rRNA genes, and 49 in the protein coding region. Among these variations 56 were reported previously and 16 were novel of which, 12 synonymous substitutions, 2 nonsynonymous substitutions along with a frameshift mutation, and one was in the non-coding region. Nicotinamide adenine dinucleotide dehydrogenase (NADH) subunit (ND) gene of mtDNA was highly altered, in general, and found to contain 4 variations specific for cataract patients of the first family, six for the second, and one for the third family. Conclusions: Seventy-two variations were observed in three inherited cataract families. Four variations were specific for cataract patients of the first family, six for the second, and one for the third family. This is perhaps the first report on the presence of mitochondrial mutations in inherited cataracts.",
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    Analysis of mitochondrial DNA variations in Indian patients with congenital cataract. / Roshan, Mascarenhas; Prasada Kabekkodu, Shama; Vijaya, Pai H.; Manjunath, Kamath; Graw, Jochen; Gopinath, PM; Satyamoorthy, Kapeattu.

    In: Molecular Vision, Vol. 18, 2012, p. 181-193.

    Research output: Contribution to journalArticle

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    AU - Roshan, Mascarenhas

    AU - Prasada Kabekkodu, Shama

    AU - Vijaya, Pai H.

    AU - Manjunath, Kamath

    AU - Graw, Jochen

    AU - Gopinath, PM

    AU - Satyamoorthy, Kapeattu

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    N2 - Purpose: Identification of mitochondrial DNA (mtDNA) variations in the inherited cataract patients from south India. Methods: Three families with inherited cataract of maternal origin were evaluated. Clinical and ophthalmologic examinations were performed on available affected as well as unaffected family members. Samples of mtDNA were amplified using 24 pairs of overlapping primers to analyze the entire mitochondrial genome to screen for variations and analyzed for both coding and non-coding regions. Bioinformatic analysis was performed to evaluate the effect of nucleotide variations. Results: DNA sequence analysis of inherited cataract families showed 72 nucleotide variations, of which 15 were observed in the major non-coding D-loop region, 3 in the tRNA genes, 5 in the rRNA genes, and 49 in the protein coding region. Among these variations 56 were reported previously and 16 were novel of which, 12 synonymous substitutions, 2 nonsynonymous substitutions along with a frameshift mutation, and one was in the non-coding region. Nicotinamide adenine dinucleotide dehydrogenase (NADH) subunit (ND) gene of mtDNA was highly altered, in general, and found to contain 4 variations specific for cataract patients of the first family, six for the second, and one for the third family. Conclusions: Seventy-two variations were observed in three inherited cataract families. Four variations were specific for cataract patients of the first family, six for the second, and one for the third family. This is perhaps the first report on the presence of mitochondrial mutations in inherited cataracts.

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    Roshan M, Prasada Kabekkodu S, Vijaya PH, Manjunath K, Graw J, Gopinath PM et al. Analysis of mitochondrial DNA variations in Indian patients with congenital cataract. Molecular Vision. 2012;18:181-193.