Idiopathic pulmonary fibrosis (IPF) is a chronic, late-onset disease of lung parenchyma with unknown etiology. IPF has been treated with corticosteroids and immunosuppressive agents, but the prognosis and the response to treatment have remained poor, and the estimated time of survival from the diagnosis is less than 3 years. The pathogenesis and etiology of IPF are unknown, but the reports of multiple affected family members in the same family support the influence of genetic factors.
In their previous studies researchers at the University of Helsinki and the University Hospital of Helsinki observed that the prevalence of idiopathic pulmonary fibrosis distributed unevenly in Finland. The prevalence was two times higher in eastern and southern Savo (45/100 000 inhabitants) compared to the prevalence in Finland (16-18/100 000).
The researchers identified multiplex families with IPF and noticed that familial IPF patients clustered within Savo and Carelia, the same areas with the high prevalence, suggesting that they most likely share a common disease-causing allele introduced by a common ancestor.
They performed a genome-wide scan with six multiplex families. Three regions on chromosomes 3, 4, and 13 obtained NPL scores of 1.7, 1.7, and 1.6, respectively, and on chromosomes 9 and 12 possible shared haplotypes were seen. These five loci were fine mapped with 63 markers in an extended data set.
After fine mapping the researchers did not detect the linkage to the loci on chromosomes 3, 9, 12, and 13. On chromosome 4q31.1 the NPL score increased to 2.1, and one third of the affected families (8/24) shared a 110 kb haplotype, while none of the unaffected family members carried it. The susceptibility haplotype was carried in 34 % of all the genotyped families (12/35), and in 7.7 % (11/143) of 143 controls, with an odds ratio of 6.3 (p=0.0001, 95 % CI=2.3–15.9).
The critical region harbors two novel candidate genes, ELMOD2, and LOC152586 that both are poorly characterized. An in vitro translation assay with LOC152586 failed to produce any peptide suggesting it is not a protein-coding gene. mRNA expression of ELMOD2 was decreased in lung biopsies derived from IPF patients (N=6) compared to healthy controls (N=7).
ELMOD2 is potentially involved in apoptosis, phagocytosis, cell engulfment, and cell migration. It is expressed in functionally relevant tissue, in lung and in fibroblasts, and its expression is significantly decreased in IPF lung compared to healthy lung. Therefore ELMOD2 becomes a prime candidate gene for familial IPF.
Dr. Ulla Hodgson | EurekAlert!
Tag it EASI – a new method for accurate protein analysis
19.06.2018 | Max-Planck-Institut für Biochemie
How to track and trace a protein: Nanosensors monitor intracellular deliveries
19.06.2018 | Universität Basel
Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...
Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.
Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...
The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.
Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.
An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.
Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...
Light detection and control lies at the heart of many modern device applications, such as smartphone cameras. Using graphene as a light-sensitive material for...
13.06.2018 | Event News
08.06.2018 | Event News
05.06.2018 | Event News
19.06.2018 | Physics and Astronomy
19.06.2018 | Life Sciences
19.06.2018 | Physics and Astronomy