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Friday, 03/09/2018 8:32:53 PM

Friday, March 09, 2018 8:32:53 PM

Post# of 469767
i found this interesting paper on PubMed that the more scientifically inclined may find worthwhile.

This review will focus on the role of MAMs in amyotrophic lateral sclerosis (ALS) and hereditary motor and sensory neuropathy, two neurodegenerative diseases particularly affecting neurons with long projecting axons. We will discuss how defects in MAM signaling may impair neuronal calcium homeostasis, mitochondrial dynamics, ER function, and autophagy, leading eventually to axonal degeneration. The possible impact of MAM dysfunction in glial cells, which may affect the capacity to support neurons and/or axons, will also be described. Finally, the possible role of MAMs as an interesting target for development of therapeutic interventions aiming at delaying or preventing neurodegeneration will be highlighted.



Furthermore, MAM dysregulation occurs in several neurological pathologies including Alzheimer’s disease, Parkinson’s disease, and motoneuron diseases10–12.



SIGMAR1 (sigma-1 receptor) recessive mutations were identified in both adult-onset137 and juvenile-onset ALS (ALS16)33,36 and also in patients affected with distal HMN (dHMN)34,35. SIGMAR1 is an ER chaperone protein present in MAMs and strongly expressed in motoneurons38,160. The mutated SIGMAR1 protein is unstable and non-functional, probably acting in a loss-of-function manner36.



https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832431/
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