University of Michigan

Hsc Research Development Corporation

Other

The Board of Regents Acting for and on Behalf of the University of

Mitchell L Drumm

Francis S Collins

Johanna Rommens

John R Riordan

Manuel Buchwald

Michael C Iannuzzi

Bat-Sheva Kerem

Lap-Chee Tsui

Tsui Lap-Chee

David C Dawson

Daniel J Wilkinson

The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.

Cystic fibrosis gene

Methods of detecting cystic fibrosis gene by nucleic acid hybridization

Cystic fibrosis (CF), a lethal genetic disease associated with a defect in Cl transport, is caused by mutations in the gene coding for cystic fibrosis transmembrane conductance regulator (CFTR). Surprisingly, not only wild type CFTR, but several naturally-occurring CFTR mutants carrying a defect in the first nucleotide binding fold (NFB1) all expressed cAMP-activatable Cl currents. Treatment of the CFTR mutants with appropriate concentrations of methylxanthine phosphodiesterase inhibitor (which increases cAMP levels) activated Cl conductance to near wild type levels. The present invention thus provides a new avenue for treating cystic fibrosis by the administration of therapeutically effective amounts of compounds which elevate cAMP levels. Dosage and patient responsiveness to treatment, as well as relative efficacies of the compounds being or to be administered can also be determined in accordance with the methods of present invention.

Method of testing potential cystic fibrosis treating compounds using

Growing community of inventors

Ann Arbor, MI, United States of America

Mitchell L Drumm