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Mouse Model of Hutchinson-Gilford Progeria Syndrome (HGPS) and Vascular Abnormalities (G608G) mutated form of human LNMA) for Therapeutic Development
Case ID:
TAB-3655
Web Published:
12/6/2022
Description:
Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from acceleration of certain aging symptoms, mainly cardiovascular disease that generally leads to death from myocardial infarction and/or stroke. The cause of HGPS has been discovered to be a de novo point mutation in lamin A (LNMA) gene. NHGRI Scientist have generated a transgenic mouse model of HGPS. This mouse carries a bacterial artificial chromosome (BAC) with a De novo mutation 1824 C to T (G608G) mutated form of human LNMA. The transgenic animals lack external phenotype seen in human progeria but have vascular abnormalities that resemble the human phenotype. Specifically, the mice have progressive vascular smooth muscle cell loss in large arteries and replacement with proteoglycan and collagen, that is, they show progressive vascular calcification. This mouse model can be used to further understand the vascular pathology of progeria and to study potential progeria therapies.
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Direct Link:
https://nih.technologypublisher.com/tech/Mouse_Model_of_Hutchinson-Gilford_Pr ogeria_Syndrome_(HGPS)_and_Vascular_Abnormalities_(G608G)_mutated_form_of_hu man_LNMA)_for_Therapeutic_Development
Category(s):
Research Materials
Infectious Disease
Therapeutics
Endocrinology
Ophthalmology
Dental
Oncology
Cardiology
Neurology
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For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
Francis Collins
Maria Eriksson
Renee Varga
Michael Erdos
Keywords:
Abnormalities
HGPS
Hutchinson-Gilford
Listed LPM Maddox as of 4/15/2015
Model
Mouse
Post LPM Assignment Set 20150420
Pre LPM working set 20150418
Progeria
RXXXXX
Syndrome
vascular
VEXXXX
VPXXXX
XEXXXX
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