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


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.

Inventors:

Francis Collins (NHGRI)  ➽ more inventions...


Intellectual Property:
US Pat: 7,297,492 issued 2007-11-20
US Pat: 8,034,557 issued 2011-10-11
PCT Pat: 8,535,884 issued 2013-09-17
US Pat: 9,115,400 issued 2015-08-25
US Application No. 13/229,441 filed on 2011-09-09
US Application No. 14/025,497 filed on 2013-09-12

Publications:
Eriksson M, et al. PMID 12714972

Licensing Contact:
Eggerton Campbell, Ph.D.
Email: eggerton.campbell@nih.gov
Phone: 301-402-1648

OTT Reference No: E-020-2003-1
Updated: Oct 5, 2015