Sökning: id:"swepub:oai:lup.lub.lu.se:e52721f4-5050-45e1-b732-85a4201d33c7" >
The "Goldilocks Eff...
The "Goldilocks Effect" in Cystic Fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse
-
Cohen, JC (författare)
-
- Lundblad, Lennart (författare)
- Lund University,Lunds universitet,Klinisk fysiologi och nuklearmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Physiology and Nuclear Medicine, Malmö,Lund University Research Groups
-
Bates, JHT (författare)
-
visa fler...
-
Levitzky, M (författare)
-
Larson, JE (författare)
-
visa färre...
-
(creator_code:org_t)
- Springer Science and Business Media LLC, 2004
- 2004
- Engelska.
-
Ingår i: BMC Genetics. - : Springer Science and Business Media LLC. - 1471-2156. ; 5
- Relaterad länk:
-
http://dx.doi.org/10... (free)
-
visa fler...
-
https://bmcgenet.bio...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Background: Cystic Fibrosis is a pleiotropic disease in humans with primary morbidity and mortality associated with a lung disease phenotype. However, knockout in the mouse of cftr, the gene whose mutant alleles are responsible for cystic fibrosis, has previously failed to produce a readily, quantifiable lung phenotype. Results: Using measurements of pulmonary mechanics, a definitive lung phenotype was demonstrated in the cftr-/- mouse. Lungs showed decreased compliance and increased airway resistance in young animals as compared to cftr+/+ littermates. These changes were noted in animals less than 60 days old, prior to any long term inflammatory effects that might occur, and are consistent with structural differences in the cftr-/- lungs. Surprisingly, the cftr+/- animals exhibited a lung phenotype distinct from either the homozygous normal or knockout genotypes. The heterozygous mice showed increased lung compliance and decreased airway resistance when compared to either homozygous phenotype, suggesting a heterozygous advantage that might explain the high frequency of this mutation in certain populations. Conclusions: In the mouse the gene dosage of cftr results in distinct differences in pulmonary mechanics of the adult. Distinct phenotypes were demonstrated in each genotype, cftr-/-, cftr +/-, and cftr+/+. These results are consistent with a developmental role for CFTR in the lung.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Radiologi och bildbehandling (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Radiology, Nuclear Medicine and Medical Imaging (hsv//eng)
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas