New research from Ruth Heidelberger, MD, PhD, Frederic B. Asche Chair in Ophthalmology and professor in the Department of Neurobiology and Anatomy at McGovern Medical School at UTHealth, and Roger Janz, PhD, associate professor of neurobiology and anatomy, has led to the discovery of a protein essential for vision.
The paper for the research titled “Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects,” appeared in the journal Human Genetics.
The initial research studied 10 subjects (five recently diagnosed; five previously diagnosed) with microvillus inclusion disease (MVID), a rare genetic disease usually beginning soon after birth that causes severe diarrhea and an inability to absorb nutrients, in search of a link between Syntaxin 3 (STX3) variants and the presence or absence of symptoms of marked visual impairment.
Data showed seven different STX3 variants in the 10 subjects, and found that each of the variants resulted in premature stop codon leading to nonsense-mediated mRNA decay or C-terminally truncated STX3 proteins that lack the transmembrane domain essential for STX3 function.
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