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Mucin Genes as a Diagnosis Marker for Pulmonary Fibrosis

Posted Feb 29 2008 4:00pm

Description of Invention:
Familial pulmonary fibrosis (FPF) is a rare type of interstitial lung disease for which there is currently no cure. FPF is part of a group of interstitial lung diseases called idiopathic interstitial pneumonias (IIP) that lead to hypoxic respiratory insufficiency. The current invention has identified genes that are associated with FPF, and a possible means of early detection and treatment. The invention discloses an association between FPF and mutations in the genes encoding the MUC2 and MUC5AC mucins that predispose a subject to IIP. The occurrence of single nucleotide polymorphisms (SNPs) in these mutant genes further enable a significant diagnostic association between these polymorphisms and both familial and sporadic forms of pulmonary fibrosis. This invention may also have diagnostic value for other IIPs including idiopathic pulmonary fibrosis (IPF); a disease that presents late in life and is lethal within 4-5 years of diagnosis.

This technology presents opportunities for early detection of subjects at high risk for the development of pulmonary fibrosis, and possibly other similar diseases such as asthma, chronic obstructive pulmonary disease (COPD) and obliterative bronchitis, which also involve fibrosis of the airways. It is also conceivable that mucin, and synthetic molecules that mimic it, may be used as therapeutic agents for the prevention and treatment of pulmonary fibrosis.

Diagnosis of diseases involving pulmonary fibrosis

David A Schwartz (NIEHS)
Lauranell H Burch (NIEHS)

Relevant Publication:
  1. MP Steele, MC Speer, JE Loyd, KK Brown, A Herron, SH Slifer, LH Burch, MM Wahidi, JA Phillips III, TA Sporn, HP McAdams, MI Schwarz, DA Schwartz. Clinical and Pathologic Features of Familial Interstitial Pneumonia. Am J Respir Crit Care Med. 2005 Nov 1;172(9):1146-1152. [ PubMed abs ]

Licensing Status:
Available for licensing.

Internal Medicine
Internal Medicine - Diagnostics

For Additional Information Please Contact:
Suryanarayana Vepa Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-5020
Fax: 301-402-0220

Ref No: 1719

Updated: 03/2008

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