Variants of MT-RNR2, MT-TI and MT-TL1 Genes in Hypertrophic Cardiomyopathy Families of Pakistan
Variants of MT-RNR2, MT-TI and MT-TL1 Genes in Hypertrophic Cardiomyopathy Families of Pakistan
Muhammad Khan1, Tehmina Ameer Khan1, Aziz Ud Din2, Muhammad Fiaz Khan1, Irfan Ullah3,*, Kalim Ullah4, Sadia Tabassum1,*
Family pedigrees: a, family HCM-01; b, family HCM-02; c, family HCM-03 and d, family HCM-04; e, genomic DNA of the given samples; f, amplicons of 16S-rRNA; g, amplicons of tRNAIle and h, amplicons of tRNALeu.
Electrocardiogram sequence of mitochondrial genome variants detected in HCM patients. a, The upper section shows the mutant type nucleotide ‘A’ at position 2552 in the 16S-rRNA gene while the lower section shows wild type nucleotide ‘T.’ b, The upper section shows the mutant type nucleotide ‘G’ at position 1811 in 16S-rRNA gene, while the lower section shows wild type nucleotide ‘A.’ c, The upper section shows the mutant type nucleotide ‘A’ at position 1888 in 16r-RNA gene, while the lower section shows wild type nucleotide ‘G.’ d, The upper section shows the mutant type nucleotide ‘T’ at position 2467 in 16r-RNA gene, while the lower section shows wild type nucleotide ‘A.’
Schematic structures of mitochondrial genes variants detected in HCM patients, design by RNA fold software via the Vienna RNA package. Four pathogenic mt-DNA mutations associated with HCM are prescribed in the upper panel as shown in figure a, c and d while the lower panel shows the wild type of nucleotides sequences.
