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The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.

Authors
  • Homa, Mégane1
  • Loyens, Anne1
  • Eddarkaoui, Sabiha1
  • Faivre, Emilie1
  • Deramecourt, Vincent1
  • Maurage, Claude-Alain2
  • Buée, Luc1
  • Huin, Vincent3, 4
  • Sablonnière, Bernard1, 5
  • 1 Univ. Lille, Inserm, CHU Lille, UMR-S 1172, JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France. , (France)
  • 2 CHU Lille, Laboratoire d'Anatomopathologie, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France. , (France)
  • 3 Univ. Lille, Inserm, CHU Lille, UMR-S 1172, JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France. [email protected] , (France)
  • 4 CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France. [email protected] , (France)
  • 5 CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France. , (France)
Type
Published Article
Journal
Cerebellum (London, England)
Publication Date
Jun 01, 2020
Volume
19
Issue
3
Pages
358–369
Identifiers
DOI: 10.1007/s12311-020-01112-y
PMID: 32002801
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 protein in mouse brain at the tissue, cellular, and subcellular levels. Immunofluorescence labeling showed TMEM240 to be expressed in various areas of the brain, with the highest levels in the hippocampus, isocortex, and cerebellum. In the cerebellum, TMEM240 was detected in the deep nuclei and the cerebellar cortex. The protein was expressed in all three layers of the cortex and various cerebellar neurons. TMEM240 was localized to climbing, mossy, and parallel fiber afferents projecting to Purkinje cells, as shown by co-immunostaining with VGLUT1 and VGLUT2. Co-immunostaining with synaptophysin, post-synaptic fractionation, and confirmatory electron microscopy showed TMEM240 to be localized to the post-synaptic side of synapses near the Purkinje-cell soma. Similar results were obtained in human cerebellar sections. These data suggest that TMEM240 may be involved in the organization of the cerebellar network, particularly in synaptic inputs converging on Purkinje cells. This study is the first to describe TMEM240 expression in the normal mouse brain.

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