LMNA Gene and Its Involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and Arteriosclerosis
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. See also Eriksson, M. et al "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome" Nature 423, 293-298 (2003).
Inventors:
B. Maria H. Eriksson and Francis S. Collins (NHGRI)
Patent Status:
DHHS Reference No. E-020-2003/0 --
U.S. Provisional Application No. 60/419,541 filed 18 Oct 2002
DHHS Reference No. E-020-2003/1 --
PCT Application No. PCT/US03/33058 filed 17 Oct 2003, which published as WO 2004/035753 on 29 Apr 2004
U.S. Patent Application No. 10/943,400 filed 17 Sep 2004
Portfolios: Gene Based Therapies
Gene Based Therapies -Diagnostics
For Additional Information Please Contact: Fatima Sayyid M.H.P.M.
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: (301) 435-4521
Email: sayyidf@mail.nih.gov
Fax: (301) 402-0220
