To try to identify the pathogenic genes involved in ALS, the UmeƄ scientists, in collaboration with Dutch and Belgian researchers, compared DNA samples from 1,337 patients with non-hereditary ALS (sporadic ALS, SALS) with DNA samples from 1,356 healthy individuals.
It is the worldās most comprehensive study in the field thus far. The researchers looked for DNA variants that only occur in patients and not in control subjects. After extremely extensive analyses, they discovered that such a variant in the gene Inositol 1,4,5-triphosphate receptor 2 (ITPR2) is strongly associated with SALS.
The ITPR2 gene codes for a protein that is important to the regulation of calcium levels in nerve cells. The protein is also involved in neurotransmission (communication between nerve cells) and so-called programmed cell death. Blood analyses revealed that the geneās activities are higher in ALS patients than in healthy subjects.
Taken together, this indicates that changes in the ITPR2 gene are a strong candidate to be seen as a risk factor in developing ALS.
The research team is now busy looking for disease-related mutations in the gene. It is completely unknown just how mutations in the ITPR2 can lead to ALS. At present it is not possible to determine whether the discovery will lead to any new treatment of ALS.
The Swedish part of the study was performed by Associate Professor and Chief Physician Peter M. Andersen, molecular geneticist Anna Birve, and research engineer Ann-Charloth Nilsson, all at the Department of Pharmacology and Clinical Neuroscience, UmeƄ University.
The discovery will be published in The Lancet Neurology in October. The Lancet Neurology is the leading international journal on diseases of the brain.
Reference: Michael A van Es, Paul W Van Vught, Hylke M Blauw, Lude Franke, Christiaan G Saris, Peter M Andersen, Ludo Van Den Bosch, Sonja W de Jong, Ruben van t Slot, Anna Birve, Robin Lemmens, Vianney de Jong, Frank Baas, Helenius J Schelhaas, Kristel Sleegers, Christine Van Broeckhoven, John H Wokke, Cisca Wijmenga, Wim Robberecht, Jan H Veldink, Roel A Ophoff, Leonard H van den Berg: ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
Contact persons: Associate Professor, Chief Physician Peter M Andersen, e-mail Peter.Andersen@neuro.umu.se, phone: +46 ( 0)90-785 00 00. Post-doctoral Fellow Anna Birve, e-mail anna.birve@neuro.umu, phone: +46 (0)90-785 29 47.
8 December, 2021 - UmeƄ universitet
Asymmetric sex chromosomes were independently shaped during evolution in many species, and different strategies evolved alongside to overcome the resulting imbalance in genetic information. Molecular biologist Marie-Line Faucillion has studied this in her dissertation defended at UmeƄ University, Sweden. Her findings can be useful to better understand how sex chromosomes are regulated, but also to
9 March, 2021 - UmeƄ universitet
Large asteroids or comets hitting Earth, massive volcanic eruptions and other single, deadly events are usually the focus for scientists seeking to reconstruct Earthās past mass extinctions. In a new study, researchers from UmeĆ„ University and the University of Florida instead uncovered a new major transition between past marine faunas that could not be explained by a single catastrophic event.
8 December, 2020 - UmeƄ universitet
On 10 December, the Nobel Prize Ceremony will take place at which Emmanuelle Charpentier and Jennifer A. Doudna will be awarded their Nobel Prizes in Chemistry. Emmanuelle Charpentier made the discovery of CRISPR-Cas9 when she worked at UmeƄ University.
22 October, 2020 - UmeƄ universitet
The Wallenberg Centre for Molecular Medicine (WCMM) in UmeƄ has been granted SEK 170 million in operational support and another SEK 68 million for recruitments into data-driven Life Science by the Knut and Alice Wallenberg Foundation.
Expertsvar, The Swedish Research Council, Hantverkargatan 11B, Stockholm SWEDENPhone +46(0)8 546 44 000
P.O. Box 1035, SE-101 38 Stockholm, expertsvar@vr.se
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