Widespread tissue hypoxia dysregulates cell and metabolic pathways in SMA.
Elena Hernandez-GerezSergio Dall'AngeloJon Martin CollinsonIan N FlemingSimon H ParsonPublished in: Annals of clinical and translational neurology (2020)
Not only is there widespread tissue hypoxia and multi-organ cellular hypoxic response in SMA model mice, but SMA-model motor neurons are especially susceptible to that hypoxia. The data support the hypothesis that vascular defects leading to hypoxia are a significant contributor to disease progression in SMA, and offer a route for combinatorial, non-SMN related therapy.