3 ms·
> In total, we observed NEK1 risk variants in nearly 3% of ALS cases. This isn't surprising, as the days of single-locus disease discoveries are largely behind
by Obi_Juan_Kenobi 7y ago
> In total, we observed NEK1 risk variants in nearly 3% of ALS cases.
This isn't surprising, as the days of single-locus disease discoveries are largely behind us, but this is just one small factor among many. It can hint at functional things, but mostly it's another landmark for risk-screening.
> NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
This is basically a grab-bag. I wouldn't expect any kind of applied research based on this for another grant cycle or two.