RNA dysregulation in diseases of motor neurons.
Motor neuron diseases (MNDs) are neurodegenerative disorders that lead to paralysis and typically carry a dismal prognosis. In children, inherited spinal muscular atrophies are the predominant diseases that affect motor neurons, whereas in adults, amyotrophic lateral sclerosis, which is inherited but mostly sporadic, is the most common MND. In recent years, we have witnessed a revolution in this field, sparked by the discovery of the genes that cause MNDs. Remarkably, at least 10 genes, whose products are either RNA-binding proteins or proteins that function in RNA processing and regulation, cause MNDs and place the dysregulation of RNA pathways at the center of motor neuron degeneration pathogenesis.
Department of Pathology and Laboratory Medicine, Division of Neuropathology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Fadia
F
Ibrahim
Tadashi
T
Nakaya
Zissimos
Z
Mourelatos
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009410:Nerve Degeneration / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D012313:RNA / Q000378:metabolism*; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism
D016601:RNA-Binding Proteins; D012313:RNA