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GlossaryHutchinson-Gilford Progeria Syndrome

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 Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case

1 citations , July 2022 in “Вопросы современной педиатрии”

Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.

research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances

June 2023 in “GSC Advanced Research and Reviews”

Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.

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”

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

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”

Progerin affects cell shape but not hair or skin in mice.

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.

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