Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

ABSTRACT:

Background

Alexander disease (AxD) is an astrogliopathy that predominantly affects the white matter of the central nervous system (CNS), and is caused by a mutation in the gene encoding the glial fibrillary acidic protein (GFAP), an intermediate filament primarily expressed in astrocytes and ependymal cells. The main pathologic feature of AxD is the presence of Rosenthal fibers (RFs), homogeneous eosinophilic inclusions found in astrocytes. Because of difficulties in procuring patient' CNS tissues and the presence of RFs in other pathologic conditions, there is a need to develop an in vivo assay that can determine whether a mutation in the GFAP results in aggregation and is thus disease-causing.

Methods

We found a GFAP mutation (c.382G > A, p.Asp128Asn) in a 68-year-old man

SUBMITTER: Lee SH 

PROVIDER: S-EPMC5590178 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature