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MATR3 haploinsufficiency and early-onset neurodegeneration.

Brain. 2021 Jun 26:awab240. doi: 10.1093/brain/awab240. Epub ahead of print. PMID: 34173818.

Authors/Editors: Zech M, Seibt A, Zumbaum B, Klee D, Meitinger T, Winkelmann J, Mayatpepek E, Wagner M, Distelmaier F.
Publication Date: 2021


As recently reviewed in Brain, the knowledge about the monogenetic spectrum underlying familial amyotrophic lateral sclerosis (ALS) has grown substantially during the last years. To date, 34 different genes have been linked to ALS, including SOD1, TARDBP, FUS, TBK1, SETX, ALS2, DCTN1, VAPB, CHMP2B, ANG, FIG4, ATXN2, SPG11, VCP, OPTN, SIGMAR1, C9orf72, UBQLN2, SQSTM1, PFN1, HNRNPA1, ERBB4, MATR3, TUBA4A, CHCHD10, KIF5A, ANXA11, TIA1, NEK1, C21orf2, MOBP, SCFD1, CCNF, and GYLD. Hypotheses regarding ALS development are numerous and comprise impaired mitochondrial function, dysregulation of protein degradation, disturbed axonal transport, alterations in autophagy, neuroinflammation, and aberrant regulation of cellular kinases. The shared end path of these pathomechanisms is selective motor neuron death leading to progressive muscle weakness, bulbar palsy, and respiratory failure (clinical subtypes of ALS are reviewed by Masrori and Van Damme3 ). So far, no effective treatment is available for affected individuals.

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