کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4208584 | 1280454 | 2011 | 7 صفحه PDF | دانلود رایگان |

BackgroundR117H is a frequent missense mutation included in most CFTR mutation panels. However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected organs, e.g. airways, intestines and sweat glands is presently lacking.MethodsWe evaluated clinical CF symptoms and assessed CFTR function by sweat tests, nasal potential difference and intestinal current measurements in 2 homozygous R117H individuals (7T variant).ResultsThe CFTR activity in airways and intestine was within the normal range. However both individuals presented with a borderline sweat test and the male patient was infertile.ConclusionsThe lack of impact of the R117H mutation on chloride secretion in intestine and nose contrasts with the ~ 80% loss of CFTR activity reported in patch clamp studies. Apparently CFTR activity is not rate-limiting for chloride secretion in both tissues at levels > 20% of normal, or compensatory factors may operate that are absent in heterologous host cells in vitro.
Journal: Journal of Cystic Fibrosis - Volume 10, Issue 5, September 2011, Pages 326–332