Unexpected link identified between rare metabolic disease gene and inherited blindness
Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder.
An unexpected connection between a gene linked to a rare metabolic disorder and inherited blindness has been discovered by researchers at the Greenwood Genetic Center. The study, published in The American Journal of Human Genetics, examined 14 individuals from 12 families with retinitis pigmentosa, an eye condition causing progressive vision loss.
Genetic testing revealed all participants had changes in both copies of the IDUA gene, typically associated with mucopolysaccharidosis type I (MPS I), a condition causing severe physical disability, heart problems and skeletal abnormalities. However, many of these individuals did not exhibit these broader health issues despite their genetic changes.
The research suggests that some of the IDUA gene changes allow for minimal enzyme activity, which may explain why these individuals developed retinal disease without the more widespread problems seen in MPS I. The findings highlight the importance of considering IDUA in genetic testing for inherited retinal diseases, even when patients do not display typical features of MPS I. This research, conducted by an international team of over 20 institutions, expands the known range of conditions associated with IDUA and could lead to earlier diagnosis and better understanding of potential treatment opportunities for patients.
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