Life Sciences & Biotechnology
Title : | Investigation of nuclear genes involvement in a Mitochondrial Disorder: Leber’s Hereditary Optic Neuropathy |
Area of research : | Life Sciences & Biotechnology |
Focus area : | Mitochondrial Disorder and Genetic Research |
Principal Investigator : | Dr. Sundaresan Periasamy, Aravind Medical Research Foundation, Tamil Nadu |
Timeline Start Year : | 2023 |
Timeline End Year : | 2026 |
Contact info : | sundar@aravind.org |
Details
Executive Summary : | Lebers hereditary optic neuropathy (LHON) is a sight threatening disorder, follows maternal inheritance and it selectively destroys retinoganglion cells (RGCs) due to the failure of electron transport complex I (ETC). ETC deficiencies are classified into mitochondrial and nuclear types based on the mutations affecting the subunits and the genes involved in either nuclear coding called as (MC1DN-Mitochondrial complex I deficiency nuclear type) or mitochondrial encoding genes termed as (MTND). Mitochondrial complex I deficiency often shows extreme genetic heterogeneity; besides, mitochondrial DNA mutations environmental factors and other nucleic genetic background have also been considering as a possible trigger in LHON. According to the recent reports, approximately 23% of childhood respiratory chain deficiency cases are caused by autosomal recessive mitochondrial complex I deficiency (MCIDN). Interestingly, there was a contractidory pattern for the prevalence of primary mitochondrial DNA mutations was noted in India, with the maximum frequency recorded at 43%, however, the global data indicates a frequency of 95%. According to our recent study in 100 LHON patients, we found that 56% of the LHON affected individual tend to harbour any one of the primary mitochondrial DNA mutation and the secondary mitochondrial DNA mutations associated with LHON, While the disease progression in the remaining 44% is still unknown. Therefore, it is crucial to identify the nuclear genome encoding complex I subunits in order to expand the genetic landscape associated with LHON. In addition, this study addresses the likelihood that vision-threatening conditions in the middle-aged group of LHON patients may be better managed with early diagnosis through prevention of acute RGC degeneration. |
Co-PI: | Dr. Mahesh Kumar, Aravind Medical Research Foundation, Madurai, Tamil Nadu-625020 |
Total Budget (INR): | 33,65,712 |
Organizations involved