Possible enzyme deficiency in cystic fibrosis
Contact: Becky Soglin University of Iowa UIowa 3193356660 beckysoglinuiowa.edu physician suggests possible enzyme deficiency in cystic fibrosis Iowa City Iowa mucus that accumulates excessively in the lungs of patients with cystic fibrosis (CF) may be related to a lack of an enzyme called arylsulfatase B. The deficiency may in turn be linked to known genetic mutations in the CF is a defect in the transmembrane conductance regulator Cystic Fibrosis Foundation (CFTR). The possible connection is proposed by Joanne Tobacman, M.D. University of Iowa assistant professor (clinical) of internal medicine, 30 years of research on the chemistry and the enzyme that normally metabolized or processes for use will be reviewed by the office.Cardiopulmonary and Critical Care Medicine
Journal of the American College of Chest Physicians: Tobacmans opinion article was on 6 Chest published in June. The CFTR gene mutated in patients with cystic fibrosis, but the symptoms were not observed fully explained by genetic changes, Tobacman said. Mutations in the CFTR gene, the activity of arylsulfatase B The CFTR defect is known, that modifies a protein, leading to problems in cellular channels that normally regulate the secretion of water and salt.Defective CFTR protein also affects other cellular processes.The discovery was made in 1989 of the CFTR gene. Tobacman was based on an initial observation by another researcher, a possible link between CFTR and establish arylsulfatase B in 1970, Elizabeth Neufeld, Ph.D., a former researcher at the National Institutes of
Health (now professor and head of biological chemistry at the University of California at Los Angeles), found reduced activity of the sulfatase enzyme in lymphoid cell lines from patients with cystic fibrosis. Normally metabolized sugar arylsulfatase B and two chains of dermatan sulfate chondroitin4.However, if arylsulfatase B is absent or inadequate, these substances can accumulate and change the properties of secretions.Pages: [1] 2 3