An international team of researchers, led by investigators at Columbia University Medical Center, have identified five small regions of the genome where they believe the genes that cause the rare retinal disease macular telangiectasia type 2 — or MacTel — are likely to reside.
After analyzing the genomes of more than 450 patients, researchers believe MacTel may get its start in the retina's Müller cells. The study reportedly found some potential MacTel genes appear to alter normal enzymatic activity in the eye, which may impair Müller cells. Researchers believe targeting these enzymes could keep Müller cells — and thus retinal cells — healthy.
The research was recently published in the journal Nature Genetics.
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Source: Columbia University Medical Center