Saturday, June 20, 2020 9:11:24 PM
1. https://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGMAR1
UniProtKB/Swiss-Prot Summary for SIGMAR1 Gene
(Among other functions - including motor function it)....... Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity). SGMR1_HUMAN,Q99720
2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269748/
Disruption of Axonal Transport in Motor Neuron Diseases
Motor neurons typically have very long axons, and fine-tuning axonal transport is crucial for their survival. The obstruction of axonal transport is gaining attention as a cause of neuronal dysfunction in a variety of neurodegenerative motor neuron diseases. .....Disruption of axonal transport also underlies the pathogenesis of spinal muscular atrophy and hereditary spastic paraplegias. These observations suggest that the impairment of axonal transport is a key event in the pathological processes of motor neuron degeneration and an important target of therapy development for motor neuron diseases.
Comment 1: Parkinson's, I think, is not currently identified as a motor neuron disease, but maybe it has some overlap with those diseases.
3. What are the four types of motor neuron disorders?
The disease can be classified into four main types depending on the pattern of motor neurone involvement and the part of the body where the symptoms begin.
Amyotrophic lateral sclerosis (ALS) ...
Progressive bulbar palsy (PBP) ...
Progressive muscular atrophy (PMA) ...
Primary lateral sclerosis (PLS)
SEE: https://www.mndnsw.asn.au/index.php?option=com_content&view=article&id=44:mndforms&catid=34:what-is-mnd
Comment 2: AVXL 2-73 has been mentioned for possible treatment of ALS, etc.
Recent AVXL News
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