Genetic and proteomic overlap between ALS and CMT: putative common molecular mechanisms between two neurodegenerative diseases
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Amyotrophic lateral sclerosis (ALS) and Charcot-Marie-Tooth disease (CMT) are distinct neurodegenerative disorders. While ALS is characterised by rapidly progressive motor neuron degeneration, leading to severe complications and death, CMT as a peripheral neuropathy is less severe, and patients have a longer life span, although with a compromised quality of life. Despite their clinical differences, current knowledge suggests that ALS and CMT may share common genetic and molecular mechanisms. We aimed to identify shared genetic mutations and molecular pathways between ALS and CMT. A literature and database search was conducted to identify genes implicated in both ALS and CMT. Thirteen genes were identified: axonal transport dysfunction (DYNC1H1, KIF5A, SPG11, and DCTN1), protein homeostasis disruption (NEFH, VCP, and SOD1), defects in RNA metabolism (GARS and SETX), cellular stress response disruption (HSPB1 and FIG4), and mitochondrial dysfunction (MFN2 and CHCHD10). Understanding these mechanistic commonalities at the molecular level can initiate new research directions, help in identifying additional common genes, improve diagnostics, and promote relevant therapeutic strategies.
