Increased Myoferlin Expression

Elizabeth McNally, MD, PhD

University of Chicago (Chicago, IL)

Dr. McNally is a Professor in the Department of Medicine, Section of Cardiology, Committee on Developmental Biology, Committee on Genetics, Human Genetics at the University of Chicago (Chicago, IL).

Past Projects

Characterize and explore ferlin members as potential substitutes to dysferlin function.

There are at least five ferlin genes in the mammalian genome. The ferlin protein family ins incompletely characterized at present. It is possible that one or more of these may be able to substitute for dysferlin. Myoferlin is highly related to dysferlin by sequence homology. Myoferlin is significantly expressed in myoblasts and then downregulated in mature myotubes and mature muscle. The project explores if increased myoferlin expression functionally is able to functionally replace dysferlin.

Outcome: Dr. McNally continues to study myoferlin and its role in membrane fusion, through a grant from the National Institute of Neurological Disorders and Stroke of the NIH.