Mitochondrial disorders: challenges in diagnosis & treatment

Khan, Nahid Akhtar ; Govindaraj, Periyasamy ; Meena, Angamuthu Kannan ; Thangaraj, Kumarasamy (2015) Mitochondrial disorders: challenges in diagnosis & treatment Indian Journal of Medical Research, 141 (1). pp. 13-26. ISSN 0971-5916


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Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the molecular mechanisms underlying these disorders are not fully understood. Since the identification of first mitochondrial DNA (mtDNA) mutation in 1988, there has been an exponential rise in the identification of mtDNA and nuclear DNA mutations that are responsible for mitochondrial dysfunction and disease. Genetic complexity together with ever widening clinical spectrum associated with mitochondrial dysfunction poses a major challenge in diagnosis and treatment. Effective therapy has remained elusive till date and is mostly efficient in relieving symptoms. In this review, we discuss the important clinical and genetic features of mitochondrials disorders with special emphasis on diagnosis and treatment.

Item Type:Article
Source:Copyright of this article belongs to Wolters Kluwer.
Keywords:Diagnosis; Diseases; Mitochondrial DNA; Mutation; Treatment
ID Code:107717
Deposited On:01 Feb 2018 11:45
Last Modified:01 Feb 2018 11:45

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