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AriSLA - The Foundation for research on ALS - has been set up to make ALS research investments more effective and efficient, to speed up the clinical research impact e and to provide patients with better care, improved conditions and life expectancy. Its aim is to boost Italian excellencies in basic, clinical and technological research. The Foundation founders are Fondazione Cariplo, Fondazione Telethon, Fondazione Vialli and Mauro and AISLA.

 

 

Two new genes discovered that increase the risk of ALS

 

Researchers from two international consortia headed by  John Landers, PhD, professor of neurology at UMass Medical School and Jan Veldink, PhD, at University Medical Center Utrecht in the Netherlands, have discovered two new ALS genes. Both have the potential to significantly increase the risk of ALS. The new findings are described in two scientific publications in the leading journal Nature Genetics.

The first paper, by whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk and a  NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, it has been observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity.

The second publication, through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, MOBP and SCFD1 have been identified as new associated risk loci.

Italian researchers from IRCCS Istituto Auxologico Italiano - Dipartimento di Fisiopatologia e Trapianti - and Centro "Dino Ferrari" of the University of Milan and from the SLAGEN Consortium, significantly contributed to both discoveries and these publications confirms the broad commitment to define the causes of Amyotrophic Lateral Sclerosis in order to quickly start the most appropriate treatment.

 

 

References:

1.  NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Kevin P Kenna, et al. Nature Genetics (2016) doi:10.1038/ng.3626.

 

2.  Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Wouter van Rheenen, et al.  Nature Genetics (2016) doi:10.1038/ng.3622

 




     
     
     
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