gene therapy for TNNT1

Gene therapy for TNNT1 is an investigational therapeutic approach designed to treat TNNT1 nemaline rod myopathy, a rare and severe genetic muscle disorder often referred to as Amish nemaline myopathy. The disease is characterized by a nonsense mutation (specifically c.505G>T) in the TNNT1 gene, which encodes the slow skeletal muscle troponin T (ssTnT) protein. ssTnT is a critical component of the troponin complex that regulates muscle contraction in slow-twitch fibers. The absence of functional ssTnT leads to progressive muscle weakness, tremors, contractures, and respiratory insufficiency, often resulting in early mortality. This gene therapy aims to deliver a functional version of the TNNT1 gene to skeletal muscle tissues to restore protein expression and muscle function. Preclinical research, including mouse and cell model studies, is being conducted by investigators at UMass Chan Medical School and Auburn University.

Other names

TNNT1 gene therapyTNNT-1 gene therapyTNNT 1 gene therapyAmish nemaline myopathy gene therapy