Transcriptome analysis of the Nasu-Hakola disease brain

ABSTRACT: Nasu-Hakola disease (NHD), also designated polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; OMIM 221770), is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of DAP12 and TREM2, which constitute a receptor/adapter signaling complex expressed on osteoclasts, dendritic cells, macrophages, and microglia. No Japanese patients with TREM2 mutations have been reported previously. We reported three siblings affected with NHD in a Japanese family. Among them, two died of NHD during the fourth decade of life. The transcriptome was studied in the autopsized brain of one patient. We found a homozygous conversion of a single nucleotide T to C at the second position

ORGANISM(S): Homo sapiens

SUBMITTER: Jun-ichi Satoh 

PROVIDER: E-GEOD-25496 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress