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

January 2019 in “ Cells ”

Katarzyna Piekarowicz, Magdalena Machowska, Volha Dzianisava, Ryszard Rzepecki

alopecia progerin LMNA gene gene therapy mutation splicing genetic disorder

Studysummary This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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research Intermittent Treatment with Farnesyltransferase Inhibitor and Sulforaphane Improves Cellular Homeostasis in Hutchinson-Gilford Progeria Fibroblasts

32 citations , July 2017 in “Oncotarget”

This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.

research Epidermal Expression of the Truncated Prelamin A Causing Hutchinson-Gilford Progeria Syndrome: Effects on Keratinocytes, Hair, and Skin

48 citations , April 2008 in “Human Molecular Genetics”

This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.

research Targeted Transgenic Expression of the Mutation Causing Hutchinson-Gilford Progeria Syndrome Leads to Proliferative and Degenerative Epidermal Disease

85 citations , March 2008 in “Journal of Cell Science”

This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.