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Grant - Winter 2019 - Mitochondrial Myopathy/ALS - Giovanni Manfredi, MD, PhD

"CHCHD10 mutations are relatively rare causes of neuromuscular disease, but the disease mechanisms and the therapeutic approaches that can emerge from this work could be extended to a diverse group of neuromuscular diseases caused by mitochondrial dysfunction."
Giovanni Manfredi, MD, PhD, professor of Neuroscience, Mitochondria, and Neurodegeneration at Weill Cornell Medical College, was awarded an MDA research grant totaling $300,000 over three years to use a novel mouse model to study CHCHD10 protein mitochondrial diseases.
Mitochondrial are tiny energy factories found inside almost all our cells and are necessary for normal function. Mutations in the CHCHD10 gene, which codes for a mitochondrial protein, can cause multi-systemic mitochondrial diseases characterized by myopathy as well as motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and dementia. In previous MDA-funded work, Dr. Manfredi created a mouse model of CHCHD10 mutations to discover that mitochondrial CHCHD10 protein accumulates and clumps together with other proteins, ultimately resulting in degeneration of the heart and muscles.
In this research, Dr. Manfredi will investigate the specific organs and tissues involved in this disease, which may lead to insights about how to design rational therapies. Specifically, he will study the molecular mechanisms of mitochondrial mutations, determine if and how the nerves and brain are involved, and identify metabolic biomarkers that might help track prognosis of the disease.
https://doi.org/10.55762/pc.gr.84556
Grantee: Mitochondrial Myopathy/ALS - Giovanni Manfredi, MD, PhD
Grant type: Research Grant
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