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LMNA Gene and Its Involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and Arteriosclerosis

Posted Dec 18 2011 7:00pm

Description of Invention:
Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare progressive childhood disorder characterized by premature aging (progeria). The most common cause of death is from arteriosclerosis and few children affected by HGPS live beyond their teens. The invention identifies point mutations in the LMNA gene, a gene which encodes a nuclear lamin protein, as the cause of HGPS. These mutations activate a cryptic splice site within the LMNA gene which leads to the excision of a portion of an exon and the subsequent generation of a Lamin A protein with an internal deletion of fifty (50) amino acids. The identification of mutations associated with HGPS could lead to breakthroughs in detection, diagnosis, and treatment of HGPS and related or similar conditions, including arteriosclerosis and aging.

Francis S Collins (NHGRI)

Patent Status:
HHS, Reference No. E-020-2003/1
US, , Patent No. 7,297,492, Issued 20 Nov 2007
US, , Patent No. 8,034,557, Issued 11 Oct 2011
US, Application No. 13/229,441 filed 09 Sep 2011

Relevant Publication:
  1. Eriksson M, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003 May 15;423(6937):293-298. [ PMID 12714972 ]

For Licensing Information Please Contact:
Fatima Sayyid MHPM
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325 Room 21,
Rockville, MD 20852
United States
Phone: 301-435-4521
Fax: 301-402-0220

Ref No: 749

Updated: 12/2011

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