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Did you mean Hutchinson-Gilford Progeria Syndrome?

Glossary Hutchinson-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 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.

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

39 citations , January 2019 in “Cells”

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.

research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies

4 citations , May 2023 in “Cells”

In this study, baricitinib treatment improved the differentiation of skin-derived precursors into adipocytes for diseases like Hutchinson-Gilford progeria syndrome, suggesting potential benefits when combined with lonafarnib.

research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China

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

This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.

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