Journal
DIAGNOSTICS
Volume 11, Issue 3, Pages -Publisher
MDPI
DOI: 10.3390/diagnostics11030509
Keywords
amyotrophic lateral sclerosis; frontotemporal dementia; genetics; neuropathology
Categories
Funding
- Ministry of Health, Czech Republic [VFN64165, TN64190]
- Grants Agency of the Ministry of Health [NV19-04-00090]
- Charles University [Progress Q27/LF1, Q35/LF3]
- Charles University (Erasmus Charles University, Third Faculty of Medicine)
- AVASTipendium (Alzheimer Foundation Czech Republic)
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ALS is a progressive and devastating disorder that overlaps clinically with FTLD. While many gene mutations are known to cause ALS, how they selectively impact motor neuron biology and whether they converge on common pathways remains poorly understood.
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal progressive degenerative disorder of motor neurons that overlaps with frontotemporal lobar degeneration (FTLD) clinically, morphologically, and genetically. Although many distinct mutations in various genes are known to cause amyotrophic lateral sclerosis, it remains poorly understood how they selectively impact motor neuron biology and whether they converge on common pathways to cause neuronal degeneration. Many of the gene mutations are in proteins that share similar functions. They can be grouped into those associated with cell axon dynamics and those associated with cellular phagocytic machinery, namely protein aggregation and metabolism, apoptosis, and intracellular nucleic acid transport. Analysis of pathways implicated by mutant ALS genes has provided new insights into the pathogenesis of both familial forms of ALS (fALS) and sporadic forms (sALS), although, regrettably, this has not yet yielded definitive treatments. Many genes play an important role, with TARDBP, SQSTM1, VCP, FUS, TBK1, CHCHD10, and most importantly, C9orf72 being critical genetic players in these neurological disorders. In this mini-review, we will focus on the molecular mechanisms of these two diseases.
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