David M. Bedwell, PhD, delivered a seminar at HudsonAlpha on research efforts to battle the health effects of nonsense mutations. Bedwell, of The University of Alabama at Birmingham’s Department of Biochemistry and Molecular Genetics, detailed studies on how to treat genetic mutations that prematurely stop genetic coding functions.
Bedwell notes that almost three-million people in the United States have an in-frame premature termination codon, also known as a nonsense mutation. Those codons prevent cells from completing their normal genetic coding functions, which can have serious health consequences. For example, these mutations are found in Duchenne and cystic fibrosis patients.
When cells function normally, they produce full-length proteins, but cells with nonsense mutations produce almost no protein. Some treatments, called readthroughs, will skip over the mutated stop codons, but they also tend to lead to suppressed protein production. Ongoing research aims to skip the premature stop codons while still creating a comparable amount of protein when held up against a healthy cell.
This seminar was hosted by Eric Mendenhall, PhD.
More information on HudsonAlpha Research Seminars, including the upcoming schedule, can be found at hudsonalpha.org/seminars.