Genomic study identifies MCU that regulates calcium transport into mitochondria

Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), a leading RNAi therapeutics company, and collaborators at Massachusetts General Hospital (MGH), the Broad Institute, and the David H. Koch Institute for Integrative Cancer Research at the Massachusetts Institute of Technology (MIT), today announced new findings published in Nature (Baughman et al., Nature advance online publication 19 June 2011; doi: 10.1038/nature10234). Using an "integrative genomics" strategy that included RNAi technology, the study identified for the first time the mitochondrial calcium uniporter (MCU), which regulates calcium transport into mitochondria. This new discovery now enables molecular studies on mitochondrial calcium physiology with implications for advancement of new medicines across a broad range of diseases.

"Our approach combined genomics, physiology, biochemistry, and pharmacology to firmly establish MCU as the essential protein component of the mitochondrial calcium uniporter. The molecular identity of this channel has been a mystery for 50 years. Its identification establishes a foundation for studying calcium transport in mitochondria in health and in disease," said Vamsi Mootha, M.D., Associate Professor of Systems Biology at Harvard Medical School and Investigator at MGH Center for Human Genetic Research. "Use of highly potent in vivo RNAi technology from our collaborators at Alnylam was central to the success of this project."

"We are excited to continue to work with our colleagues in leading academic laboratories to advance in vivo RNAi technologies for the discovery and molecular validation of target genes involved in physiology and disease. We are pleased to have participated in this landmark study, which demonstrates again the power of Alnylam in vivo RNAi technologies for functional genomics," said Victor Kotelianski, M.D., Ph.D., D.Sc., Senior Vice President, Distinguished Alnylam Fellow. "The discovery of MCU will enable molecular studies in which the channel apparatus is targeted or manipulated, leading to the potential discovery of new medicines."