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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,*

1Department of Zoology, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan
2Department of Genetics, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan
3Department of Biological Science, Karakoram International University, Ghizer Campus, Gilgit Baltistan, 15200, Pakistan
4Department of Zoology, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan

*      Corresponding author:;


Hypertrophic cardiomyopathy is a condition in which the myocardial muscles become thickened without an apparent cause. It exhibits the prevalence of 1/500 globally. Eighteen samples from four families of maternally inherited HCM were collected, based on their clinical records. Three mitochondrial encoded genes 16S-rRNA (MT-RNR2), tRNAIle (MT-TI) and tRNALeu (MT-TL1) were targeted for analysis of mutation. Genomic DNA was extracted from buccal swab using Phenol: Chloroform: protocol. The target genes were amplified via polymerase chain reaction (PCR). The amplified gene products were sequenced and compared with the revised Cambridge Reference Sequence (rCRS) Accession-No. N_012920.1. Four mutations in 16S-rRNA gene have been identified viz mt-2552T>A, mt-1811A>G, mt-1888A>G and mt-2467A>T and two are novel, mt- 2552T>A and mt-2467A>T while others have been previously reported, in patients of German and French population. For the first time, the mt-1888A>G and mt-1811A>G mutation in MT-RNR2 gene have been observed in patients of HCM in the Pakistani population and even not found in the control group of the same families. No mutation in mt-DNA encoded tRNAIle, and tRNALeu genes were observed, the mutations detected in mt-DNA encoded 16S-rRNA gene are the pathogenic mutations associated with HCM in Pakistani population.

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Pakistan Journal of Zoology


Vol. 53, Iss. 3, Pages 801-1200


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