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GlossaryHutchinson-Gilford Progeria Syndrome (HGPS)

rare genetic disorder causing rapid aging in children

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by rapid aging in children, typically becoming apparent within the first two years of life. It is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin, resulting in cellular instability and the accelerated aging process.

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research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China

3 citations, September 2013 in “Journal of the American Academy of Dermatology”

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations

115 citations, October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Lamins in Development, Tissue Maintenance, and Stress

64 citations, November 2012 in “EMBO reports”

Lamins are vital for cell survival, organ development, and preventing premature aging.

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

32 citations, July 2017 in “Oncotarget”

Alternating treatment with two drugs could help cells in a rapid aging disease.

research Premature Aging Syndromes: From Patients to Mechanism

29 citations, October 2019 in “Journal of dermatological science”

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

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