基因缺陷与慢性肺部疾病
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【摘要】肺部空洞性病变是许多慢性肺疾病的病理表现，最近的一项研究报告指出：这种空洞性病变的产生与某种基因缺陷有关。【全文】Defective gene linked to a group of lung disordersBy Merritt McKinneyNEW YORK, Feb 23 (Reuters Health) - Scientists have identified a genetic defect that may be involved in a type of chronic lung disease.Interstitial lung disease is a blanket term for more than 100 types of chronic lung disorders, according to Dr. Lawrence M. Nogee, of Johns Hopkins University in Baltimore, Maryland. Trying to understand the root causes of interstitial lung disease has been frustrating, he told Reuters Health in an interview.One theory is that the disease occurs when the lungs cannot recover after they are injured in some way, perhaps by an infection, Nogee said.Now, he and his colleagues report on a mother and child with interstitial lung disease who both had a mutation in the gene for a protein called surfactant protein C, or SP-C. This protein is essential for the production of a normal surfactant, the fatty substance that lines the lungs and keeps them from collapsing.The mother and child with the defective SP-C gene were able to breathe normally when they were born, but they both later developed interstitial lung disease, Nogee and his colleagues report in the February 22nd issue of The New England Journal of Medicine."There is a mutation in the gene that encodes SP-C that seems to be the cause of the interstitial lung disease in this family," Nogee said in the interview.The research represents "a new sort of way of looking at this lung disease," he added. "It give us a clue to what some of the mechanism is for interstitial lung disease."The finding may also help researchers better understand other types of lung disease, according to Nogee. The fact that the woman and child did not have any breathing troubles at birth suggests that SP-C is not essential to the lungs immediately after birth, the researchers point out in the report. However, the protein appears to later become critical for normal lung function, they note.So, according to Nogee, it may be possible that other lung diseases stem from malfunctioning SP-C. These problems could result from genetic or other causes, he said.SOURCE: The New England Journal of Medicine 2001;344, 百拇医药
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