Research Projects

Mitochondrial disorders are a diverse group of diseases with non-specific clinical features, often affecting tissues with high energy demand. The Mitochondrial Respiratory Chain (MRC) enzyme complex assay is crucial for diagnosing these disorders, but only two laboratories in India perform the RCC assays on complex I, II, III, and IV. The addition of the C-V assay could enhance diagnostic yield. Muscle biopsy is an invasive procedure that is considered redundant or performed later in evaluation when other tests fail to yield a diagnosis. Alternative sources like skin tissue or peripheral blood leukocytes (PBL) are needed for further studies, but these methods are not systematically evaluated and validated. This study aims to standardize and introduce C-V analysis and compare the results of MRC assay from all three sources (muscle, skin fibroblasts, and PBL). Immunohistochemistry (IHC) is limited in its utility in mitochondrial disorders, with no studies from India. This study will check whether IHC for MRC complex I to IV on muscle tissue is comparable to biochemical assays (sphectrophotometric) on muscle, as IHC is more easier and feasible in most labs. MicroRNA (miRNAs) play a central role in regulating post-transcriptional gene expression by modulating messenger RNA. There are no studies from India regarding miRNAs and mitochondrial myopathies, so this study aims to investigate whether miRNA can serve as a biomarker in the diagnosis and management of mitochondrial disorders.