PMM2-CDG has no therapy and there are no models to test new treatments, but Shengfang and her team generated mice with the R137H and F115L mutations in PMM2 that correspond to the most prevalent human alleles of R14H and F119L, a particular variant of a gene, found in patients with PMM2-CDG.Many of these mice died prenatally, while survivors had significantly stunted growth. These animals and cells showed protein glycosylation deficiencies which are similar to those seen in patients with PMM2-CDG.
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