Increased number of known genes associated with ALS
- Post by: Ana Mitrović
- 7.December, 2021
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International research consortium Project MinE, in which prof. dr. Boris Rogelj from our department is the scientific expert for Slovenia, published the largest genome-wide association study to date on the genetic causes of amyotrophic lateral sclerosis (ALS), increasing the number of known genes associated with this severe disease to 15.
Researchers from the international consortium of the Project MinE, in an article published this week in the journal Nature Genetics (IF 38.3), presented the results of the largest genome-wide association study in ALS, a collaboration between researchers and ALS associations from 22 countries. 29,612 patients with ALS and 122,656 healthy controls were included in the study.
The biggest contribution of the research is the discovery of new genes whose mutations increase the risk of ALS. At the same time, they further confirmed already known genes associated with ALS and investigated similarities with other neurodegenerative diseases. Research suggests disease perturbance in intracellular vesicle transport and autophagy, which is an important process by which a cell removes damaged or excess proteins. A causal link between the disease and higher cholesterol levels has also been established.
The research is the result of the effective participation of ALS patients, their relatives, societies and researchers from many countries. Slovenian patients and researchers also contributed to this important discovery, as the study also analyzed the genetic material of Slovenian patients. The co-authors of the study were prof. dr. Boris Rogelj (Jožef Stefan Institute and Faculty of Chemistry and Chemical Technology, University of Ljubljana), prof. dr. Metka Ravnik-Glavač and prof. dr. Damjan Glavač (Faculty of Medicine, University of Ljubljana) and doc. dr. Blaž Koritnik and prof. dr. Janez Zidar (Institute of Clinical Neurophysiology, University Medical Center Ljubljana).
Link: https://www.nature.com/articles/s41588-021-00973-1