EXPLORING GENETIC MARKERS AND PRENATAL DIAGNOSIS OF PRIMARY COQ10 DEFICIENCY-6: IMPLICATIONS FOR ATHLETIC PERFORMANCE AND HEALTH

Abstract

Objective: This study delves into the genetic underpinnings and prenatal diagnostic approaches for Primary Coenzyme Q10 (CoQ10) Deficiency-6, a rare metabolic disorder, with a focus on its implications for athletic performance and health. Methods: We conducted a genetic analysis of a family affected by Primary CoQ10 Deficiency-6, utilizing next-generation sequencing to identify mutations responsible for the condition. The family’s pedigree was analyzed, and prenatal diagnosis was offered to at-risk pregnancies. The role of CoQ10 in cellular energy metabolism and its impact on muscle function and athletic performance was also reviewed. Results: The analysis identified a novel mutation linked to Primary CoQ10 Deficiency-6, which was confirmed through prenatal testing in two pregnancies within the family. The deficiency's impact on mitochondrial function suggests significant implications for muscle endurance and performance, areas crucial in athletic activities. Conclusion: Our findings underscore the importance of genetic screening and prenatal diagnosis for families at risk of Primary CoQ10 Deficiency-6. Understanding the genetic basis of this deficiency is crucial not only for potential therapeutic interventions but also for managing and optimizing the health and performance of athletes who may be affected by such metabolic challenges.