Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment

    January 2019 in “ Cells ”
    Katarzyna Piekarowicz, Magdalena Machowska, Volha Dzianisava, Ryszard Rzepecki
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    TLDR Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
    The document reviews Hutchinson-Gilford progeria syndrome (HGPS), a severe genetic disorder caused by a mutation in the LMNA gene, which results in the production of an abnormal protein called progerin. This accumulation of progerin leads to symptoms resembling accelerated aging, such as alopecia, cardiovascular issues, and early death. The review discusses the molecular mechanisms of HGPS, evaluates current research, and examines the available mouse models for the disease. It also assesses the status of treatments and the potential for gene therapy as a future treatment option. The mutation responsible for HGPS is specifically identified as c.1824C > T in exon 11 of the LMNA gene, which affects the splicing of the gene transcript and results in the production of progerin.
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