Daniela Zarnescu, associate professor in molecular and cellular biology, neuroscience and neurology at the University of Arizona in Tucson, was awarded an MDA research grant totaling $299,818 over a period of three years to shed light on metabolic dysregulation in people with amyotrophic lateral sclerosis (ALS).
Metabolic dysregulation in ALS has long been recognized, but it isn’t understood why it occurs.
With the recent identification of cellular aggregates (clumps) containing TDP-43 protein, and the discovery of TDP-43 gene mutations in some ALS patients, the TDP-43 protein has emerged as a common denominator in a majority of ALS cases.
With colleagues, Zarnescu has developed a drosophila (fruit fly) model of ALS based on mutations in the gene for TDP-43 that exhibits alterations in motor function and lifespan that are remarkably similar to what is seen in the human disease. Using this model, the team has identified specific alterations in the cellular metabolic pathways that govern energy production in the nerve cells affected by ALS. These findings, they say, suggest defects in the way mitochondria, the cell’s power plants, are functioning.
The team will now test whether molecular and genetic tools together with dietary interventions can restore mitochondrial function and improve outcomes in fly and patient-derived cell models. The work may help establish the feasibility of developing therapeutic strategies aimed at restoring defects in energy production in ALS-affected cells.
Funding for this MDA research grant began Aug. 1, 2016.
Grantee: ALS – Daniela Zarnescu, Ph.D.
Grant type: Research Grant
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