In vivo distribution and localization of chorein.
Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. In this study, we produced an antibody against chorein and examined its protein-level expression and localization in mouse. Immunoblot analysis revealed that chorein was expressed in a gene dose-dependent manner in the VPS13A deletion-mice that we recently developed, which confirms the sensitivity of the antibody. Chorein was highly expressed in testis, kidney, spleen, and brain, and was expressed ubiquitously in various brain regions. Subcellular analysis of the brain showed high levels of chorein in microsomal and synaptosomal fractions. Immunohistochemically, chorein-like immunoreactivity was ubiquitously observed in the brain in the neuronal perinuclear region, cytoplasm and fibers. In testis and kidney, clear cell-specific patterns of chorein-like immunoreactivity were detected. Our findings provide basic information on chorein in vivo and may contribute to taking the first step toward understanding molecular pathogenesis of ChAc.
Kurano
Yutaka
Y
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Nakamura
Masayuki
M
Ichiba
Mio
M
Matsuda
Mieko
M
Mizuno
Emiko
E
Kato
Maiko
M
Agemura
Asumi
A
Izumo
Shuji
S
Sano
Akira
A
D000818:Animals; D002819:Chorea / Q000378:metabolism*; D004195:Disease Models, Animal; D051379:Mice; D009419:Nerve Tissue Proteins / Q000378:metabolism*; D009928:Organ Specificity; D014018:Tissue Distribution; D033921:Vesicular Transport Proteins
D009419:Nerve Tissue Proteins; D033921:Vesicular Transport Proteins; C497828:Vps13a protein, mouse