Mitochondrial disorders: Challenges in diagnosis & treatment.

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dc.contributor.authorKhan, Nahid Akhtar
dc.contributor.authorGovindaraj, Periyasamy
dc.contributor.authorMeena, Angamuthu Kannan
dc.contributor.authorThangaraj, Kumarasamy
dc.date.accessioned2015-06-25T12:05:50Z
dc.date.available2015-06-25T12:05:50Z
dc.date.issued2015-01
dc.description.abstractMitochondrial 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.en_US
dc.identifier.citationKhan Nahid Akhtar, Govindaraj Periyasamy, Meena Angamuthu Kannan, Thangaraj Kumarasamy. Mitochondrial disorders: Challenges in diagnosis & treatment. Indian Journal of Medical Research. 2015 Jan; 141 (1): 13-26.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/158398
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405934/?report=classicen_US
dc.subjectDiagnosisen_US
dc.subjectdiseasesen_US
dc.subjectmitochondrial DNAen_US
dc.subjectmutationen_US
dc.subjecttreatmenten_US
dc.subject.meshDNA, Mitochondrial --genetics
dc.subject.meshHumans
dc.subject.meshMitochondrial Diseases --complications
dc.subject.meshMitochondrial Diseases --diagnosis
dc.subject.meshMitochondrial Diseases --genetics
dc.subject.meshMitochondrial Diseases --therapy
dc.subject.meshMutation
dc.titleMitochondrial disorders: Challenges in diagnosis & treatment.en_US
dc.typeArticleen_US
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