Molecular characterization of mt-DNA mutations associated with hypertension and cardiovascular diseases

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Umer bin Zakaria1*, Muhammad Arshad1*2, Aleem Ahmed1*3, Kaleem Ahmed1*4, Ahad Mehmood5




Hypertension, a physical condition characterized by elevated blood pressure, stands as a significant contributor to various severe illnesses such as cardiovascular diseases, renal diseases, strokes, and numerous vascular conditions. While environmental factors play a function in the development of hypertension, a substantial portion of its origins can be attributed to genetic factors. Notably, hypertension serves as a primary catalyst for numerous cardiovascular diseases, often culminating in fatalities on a global scale. The multifaceted etiologies of cardiovascular diseases encompass lifestyle choices, environmental factors, and genetic predispositions. This research delved into a relatively unexplored facet of hypertension-related cardiovascular diseases by investigating mitochondrial mutations in patients diagnosed with hypertension. Surprisingly, despite the prevalence of hypertension, a definitive link between this condition and the development of cardiovascular diseases has yet to be conclusively established. The data from 80 patients was included in the study and samples were meticulously gathered from various hospitals, specifically targeting individuals grappling with hypertension and concomitant heart-related ailments. The methodology involved the procurement of saliva followed by the extraction and sequencing of mitochondrial DNA (mtDNA). Subsequently, advanced bioinformatics tools were employed to scrutinize the genetic data, with the prime focus to identify and characterize any mutations associated with mitochondrial physiology. The outcomes of this study hold the potential to be invaluable for both the general population and medical practitioners. By uncovering mitochondrial mutations linked to hypertension, the research provided individuals with hypertension insights into their specific risk factors for cardiovascular diseases. This knowledge, in turn, empowers the population to adopt preventative measures and make informed lifestyle choices. Furthermore, physicians stand to benefit from a deeper understanding of the genetic underpinnings of cardiovascular risks in hypertensive patients, enabling more personalized and effective medical interventions. Conclusively, this research endeavored to bridge gaps in current knowledge, offered a foundation for enhanced care and supervision of persons at stake of cardiovascular diseases due to hypertension

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