Читать книгу Spectrums of Amyotrophic Lateral Sclerosis - Группа авторов - Страница 35

In an experimental paradigm similar to ANXA11, variants in GLT8D1 were observed in familial ALS cases [67]. Exome sequencing was used to identify rare and predicted deleterious variants that segregated well with the disease phenotype, resulting in candidate genes GLT8D1 and ARPP21. Several patients carried both the ARPP21 p.P529L and GLT8D1 p.R92C variants, each of which could have been the causal factor. However, an examination of variants identified by the large‐scale ALS Project MinE [68] revealed a larger number of ALS cases carrying the GLT8D1 variant without any ARPP21 variants than the same variant with the ARPP21 variant. The gene GLT8D1 encodes a glycosyltransferase protein, which the authors note is not typically implicated in ALS and might represent a new avenue to investigate for ALS neurodegeneration [67].