Mitochondria are the powerhouse of cells. In addition to energy metabolism, with their role in various metabolic pathways mitochondria are linked to more than 150 rare disorders that arise from genetic changes disturbing mitochorial functions. Despite their fundamental role in cell metabolism and rare disorders, functions of many genes that are related to mitochondria are yet to be determined. With the aim of gaining further insight into the functions of these uncharacterized mitochodrial proteins the study “Defining mitochondrial protein functions through deep multiomic profiling” published in May 25th, 2022 in Nature presents an extensive collection of multi-omic data, MITOMICS, that is obtained by proteomic, lipidomic and metabolomic assays in HAP1 cells which have been knocked out for genes encoding mitochondrial proteins with either well-defined or unknown functions.
The researchers Assist. Prof. Dr. Arda Çetinkaya (MD, PhD) and Prof. Dr. Nurten Akarsu (MD, PhD) from our university’s Faculty of Medicine, Medical Genetics Department have appeared in the Nature paper for providing genomic level proof-of-concept that MITOMICS approach could be utilized for discovery of novel disease genes. In their paper, Hacettepe researchers present their findings about the discovery of the link between the RAB5IF gene and a rare disease with a “reverse genetics” approach that prioritizes function over genes. This study is a continuation of the disease gene identification study supported by the TÜBİTAK-funded European Union’s E-rare consortium project titled Cranirare under the leadership of Prof. Dr. Nurten Akarsu as the principal investigator and Prof. Dr. Yasemin Alanay as the clinical expert.
Original Article: https://www.nature.com/articles/s41586-022-04765-3