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Accession Number:

AD1182796

Title:

Identification of Novel Targets to Treat Spinal Muscular Atrophy

Author(s):

• McCormack, Nikki M.

Author Organization(s):

• UNIFORMED SERVICES UNIV OF THE HEALTH SCIENCES BETHESDA MD

Report Date:

2020-03-17

Abstract:

Spinal muscular atrophy (SMA) is a debilitating neuromuscular disease that is one of the leading genetic causes of infant mortality. SMA is caused by insufficient levels of survival motor neuron (SMN) protein and is characterized by the loss of lower motor neurons in the anterior horn of the spinal cord and denervation-dependent muscle atrophy. Patients present with severe muscle weakness and fail to achieve normal motor milestones. Recently approved treatments for SMA, nusinersen and gene therapy, prolong lifespan, but only a small subset of patients have improvements in their motor function.

Document Type:

Conference:

Journal:

Pages:

123

File Size:

3.94MB

Contracts:

Grants:

Descriptors:

• cell physiological processes
• cells
• skeletal muscle
• chemistry
• peripheral nervous system
• stem cells
• genetics
• proteins
• synapses
• neurons
• muscle cells
• enzyme inhibitors
• gene therapy
• brain
• myoblasts
• transcription factors
• cell membrane

SubjectCategory:

• Biological and Medical Sciences
• Biological and Medical Sciences

Communities of Interest:

• Biomedical

Distribution Statement:

Approved For Public Release

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