October 18, 2017

Foundation renews funding for Drescher lab investigation into genetic causes of deafness and muscle disorders

Pictured: Dennis Drescher, Ph.D.

Dennis Drescher, Ph.D., professor of Otolaryngology and of Microbiology, Immunology and Biochemistry at Wayne State University School of Medicine, was awarded a $110,000 grant renewal from the Jain Foundation in Seattle for a third year of investigation that may lead to better diagnoses of ferlin-based deafness and muscle disorders while also providing a deeper understanding of underlying biochemical mechanisms.

Both skeletal muscle and the inner ear contain ferlins, which promote membrane fusion.

Dr. Dennis Drescher serves as the principal investigator and Marian Drescher, Ph.D., associate professor of Otolaryngology, as co-principal investigator on the project, "Molecular-Functional Comparisons of the Dysferlin Membrane Repair Complex with the Otoferlin Synaptic Complex."

The Jain Foundation is focused on understanding and curing a form of muscular dystrophy termed LGMD2B/Miyoshi, caused by a defect in the dysferlin protein. Dr. Drescher is studying the ferlin family of proteins -- to which dysferlin belongs -- known to repair cell membranes. Ferlin genetic abnormalities cause deafness in the inner ear and wasting in muscle.

Dr. Drescher's current continuation grant will explore his recent findings, including a rationale for pharmacological intervention, and how dysferlin might be involved in recovery from temporary deafness as well as from muscle injury. Based on methodology developed with Jain support, Dr. Drescher was invited in 2017 to contribute to the book series, "Advances in Protein Chemistry and Structural Biology," an essential volumized resource for protein chemists published continuously since 1944.

In association with Dr. Marian Drescher, further molecular findings were published in The Biochemistry Society's Biochemical Journal in 2017. Dr. Dennis Drescher continues to collaborate with the University of Washington on the molecular structure of the dysferlin molecule.

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