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Fibroblast growth f...
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
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- Klar, Joakim (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik,Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala, Sweden
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- Blomstrand, Peter (författare)
- Department of Clinical Physiology, Ryhov County Hospital, Jönköping, Sweden
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- Brunmark, Charlott (författare)
- AstraZeneca RandD, Lund, Sweden
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- Badhai, Jitendra (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab,Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala, Sweden
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- Håkansson, Hanna Falk (författare)
- AstraZeneca RandD, Lund, Sweden
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- Brange, Charlotte Sollie (författare)
- AstraZeneca RandD, Lund, Sweden
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- Bergendal, Birgitta (författare)
- National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden
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- Dahl, Niklas (författare)
- Uppsala universitet,Medicinsk genetik,Science for Life Laboratory, SciLifeLab,Dahl,Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala, Sweden
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(creator_code:org_t)
- 2011-07-08
- 2011
- Engelska.
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Ingår i: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 48:10, s. 705-709
- Relaterad länk:
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https://doi.org/10.1...
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https://jmg.bmj.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Background Genetic factors influencing lung function may predispose to chronic obstructive pulmonary disease (COPD). The fibroblast growth factor 10 (FGF10) signalling pathway is critical for lung development and lung epithelial renewal. The hypothesis behind this study was that constitutive FGF10 insufficiency may lead to pulmonary disorder. Therefore investigation of the pulmonary functions of patients heterozygous for loss of function mutations in the FGF10 gene was performed. Methods The spirometric measures of lung function from patients and non-carrier siblings were compared and both groups were related to matched reference data for normal human lung function. Results The patients show a significant decrease in lung function parameters when compared to control values. The average FEV1/IVC quota (FEV1%) for the patients is 0.65 (80% of predicted) and reversibility test using Terbutalin resulted in a 3.7% increase in FEV1. Patients with FGF10 haploinsufficiency have lung function parameters indicating COPD. A modest response to Terbutalin confirms an irreversible obstructive lung disease. Conclusion These findings support the idea that genetic variants affecting the FGF10 signalling pathway are important determinants of lung function that may ultimately contribute to COPD. Specifically, the results show that FGF10 haploinsufficiency affects lung function measures providing a model for a dosage sensitive effect of FGF10 in the development of COPD.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- fibroblast growth factor 10
- terbutaline
- adult
- animal experiment
- animal model
- article
- chronic obstructive lung disease
- clinical article
- controlled study
- forced expiratory volume
- gene loss
- gene mutation
- genetic variability
- haploinsufficiency
- heterozygote
- human
- inspiratory capacity
- lung function
- mouse
- nonhuman
- phenotype
- priority journal
- sibling
- signal transduction
- spirometry
- total lung capacity
- vital capacity
- Adolescent
- Aged
- Analysis of Variance
- Animals
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Mice
- Mice
- Transgenic
- Middle Aged
- Pulmonary Disease
- Chronic Obstructive
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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