+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation

, : Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation. American Journal of Respiratory and Critical Care Medicine 159(6): 1998-2002

Disease severity varies among cystic fibrosis (CF) patients carrying the same cystic fibrosis transmembrane conductance regulator (CFTR) genotype and among organs of the same individual. It has been shown that the class V splicing mutation 3849 + 10 kb C--> T produces both normal and aberrantly spliced CFTR transcripts. We analyzed the levels of normal CFTR messenger RNA (mRNA) in different organs of an aborted fetus carrying the 3849 + 10 kb C--> T mutation, and found that they correlated with the histopathologic changes observed in these organs. We performed semiquantitative nondifferential reverse transcription-polymerase chain reaction on several organs from a 22-wk aborted CF fetus carrying the 3849 + 10 kb C--> T mutation. A very low level (1%) of normal CFTR mRNA was detected in the severely affected ileum of this fetus. Higher levels were found in the histopathologically unaffected trachea (17%), colon (19%), and lung (26%). Thus, as early as in utero, the regulation of alternative splice-site selection is an important mechanism underlying variable CF severity. Understanding of the mechanisms regulating alternative splicing in different tissues will contribute to potential therapy for patients carrying splicing mutations in CF and other human disease genes.


PMID: 10351951

DOI: 10.1164/ajrccm.159.6.9808012

Other references

McDonald, S., 1994: An ethical dilemma: risk versus responsibility. 1. In the psychiatric community, two highly profitable diagnoses currently are filling psychiatric hospitals: dissociative disorder and multiple personality disorder. Certainly these patients need help, and psychiatric nurses are well-qualified to...

Liaginskaia, A.M.; Tukov, A.R.; Osipov, V.A.; ErmalitskiÄ­, A.P.; Prokhorova, O.N., 2010: Congenital malformations among offspring of the liquidators of the consequences from Chernobyl accident. The frequency and the structure of congenital malformations at children of the liquidators of the consequences from Chernobyl accident, undergone to an external scale gamma-irradiation in dozes up to 25 cGy. In total is surveyed 2379 newborn at wh...

Fantham, H.B.; Porter, A.; Richardson, L.R., 1942: Some Haematozoa observed in vertebrates in eastern Canada. Some new spp. of Mastigophora and Sporozoa and a Microfilaria, parasitic in fish, frogs and toads in eastern Canada, are described and illustrated. Mastigophora Trypanosoma percae var. canadensis* from the yellow perch, Perca flavescens; T. myoxoc...

Mascre, M., 1952: Medicaments and the pharmaceutical form in which they appear. Produits Pharmaceutiques 7(6): 299-304

Cavalie A.; Pelzer D.; Trautwein W., 1986: Fast and slow gating behavior of single calcium channels in cardiac cells relation to activation and inactivation of calcium channel current. (1) The Ca-channel gating behaviour during steady and stepwise depolarization was examined in recordings of single Ca-channel activity from cell-attached membrane patches of single ventricular cells isolated enzymatically from hearts of adult guin...

Colleran, P.N.; Delp, M.D., 2002: Simulated microgravity alters mesenteric resistance artery vasoconstrictor responsiveness. Medicine & Science in Sports & Exercise 34(5 Supplement): S30, May

Schultz, S.K.; O'Leary, D.S.; Boles Ponto, L.L.; Watkins, G.L.; Hichwa, R.D.; Andreasen, N.C., 1999: Age-related changes in regional cerebral blood flow among young to mid-life adults. Using PET with [(15)O]H2O, we examined age in relation to regional cerebral blood flow (rCBF) among young to mid-life adults. Previous work has largely contrasted rCBF between young and elderly age groups dichotomously. This study maps the continu...

Doll, R., 1974: Oral contraception: a medical audit. New Zealand Medical Journal 80(524): 253-257

Mareri, A.; Iezzi, M.; Salvatore, A.; Ligas, C.; D'Alessandro, E., 2016: A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review. Maleness associated with a 45,X karyotype is a rare condition in childhood. It is usually diagnosed in adult age because of infertility. We report a unique case of an unbalanced translocation t(Y;21) in a 14-year-old boy with 45,X karyotype referr...

Hutchinson, A., 2000: Home mixed rations for weaned calves. Suitable ingredients along with their attributes and deficiencies, of home mixed rations for weaned calves are presented. Example mixes and combination rations for different classes of stock with potential problems of balance are also given.