Single-gene mutations that lead to atopic dermatitis identified

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The findings suggest some the genetic defects underpinning atopic dermatitis could be corrected by glutamine supplementation.

Scientists have identified mutations in the CARD11 gene that lead to atopic dermatitis and say their research suggest a potential therapeutic target.

Through next-generation sequencing on a cohort of patients with severe atopic dermatitis, scientists from the National Institute of Allergy and Infectious Diseases in the US identified eight individuals, from four unrelated families, with novel heterozygous mutations in CARD11. Each of the four families had a distinct mutation that affected a different region of the CARD11 protein, but all the mutations had similar effects on T-cell signalling.

The scientists determined that the mutations led to defective activation of two cell-signalling pathways, one of which is typically activated in part by glutamine. They found growing cultured T-cells from patients with CARD11 mutations with excess glutamine boosted rapamycin complex 1 (mTORC1) activation, suggesting the potential to partially correct the cell-signalling defects that may contribute to atopic dermatitis.

A new study is now planned to assess the effect of supplemental glutamine and leucine, which also activates mTORC1, in people with atopic dermatitis with and without the single gene mutations.

The findings are published in Nature Genetics .


Um comentário em “Single-gene mutations that lead to atopic dermatitis identified

    heloisagirao disse:
    07/05/2017 às 02:32

    Favor não me enviar mais e-mails. Grata


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