MDA awarded a research grant totaling $357,366 over three years to Jeffrey Milbrandt, professor and head of the department of genetics, and professor of pathology & immunology, medicine and neurology at Washington University School of Medicine in St. Louis.

The funds will help support Milbrandt's work in determining how Schwann cells contribute to nerve damage (neuropathy) in neuromuscular diseases such as Charcot-Marie-Tooth disease (CMT) and Friedreich's ataxia (FA).

Neuropathies and neuromuscular diseases like CMT and FA are associated with poor function of mitochondria, the energy producer in cells.

In previous work, Milbrandt and colleagues found that mice with mitochondrial deficits in Schwann cells develop a progressive neuropathy. (Schwann cells are a type of support — or glial — cell in the nervous system outside the brain and spinal cord; they support the function and maintenance of nerve fibers, or axons.)

Milbrandt's new project focuses on determining how Schwann cells obtain their energy when their mitochondria are damaged, and the mechanisms by which Schwann cell metabolism causes damage to the peripheral nerves (bundles of nerve fibers that run between the spinal cord and the muscles). He also plans to test whether pharmacological interventions to manipulate Schwann cell metabolism will help restore normal peripheral nerve function.

"For these studies, we will use a mouse model in which mitochondria are dysfunctional specifically and exclusively in Schwann cells," Milbrandt explains. "These mice, called Tfam-SCKO mice, are a good model for these studies because they develop many critical features of human neuromuscular disease and peripheral neuropathy."

Millbrandt notes: "Peripheral neuropathy research is entering a new era as we learn more about how axons are dismantled and the role of glia in maintaining axon health. There are unparalleled opportunities now to develop new treatments for this debilitating condition that is reaching epidemic proportions worldwide."

Funding for this MDA grant began Aug. 1, 2012.