Developmental expression of dysbindin in Muller cells of rat retina

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• 作者：Andrea Matteucci ; Lucia Gaddini ; Gianfranco Macchia ; Monica Varano ; Tamara C. Petrucci ; Pompeo Macioce ; Fiorella Malchiodi-Albedi ; Marina Ceccarini
• 关键词：dysbindin ; retina ; Mü ; ller cells ; dystrophin-associated protein complex ; Hermansky&ndash ; Pudlak syndrome type 7 ; schizophrenia
• 刊名：Experimental Eye Research
• 出版年：November, 2013
• 年：2013
• 卷：116
• 期：Complete
• 页码：1-8
• 全文大小：2575 K

文摘

Dysbindin, the product of the DTNBP1 gene, was identified by yeast two hybrid assay as a binding partner of dystrobrevin, a cytosolic component of the dystrophin protein complex. Although its functional role has not yet been completely elucidated, the finding that dysbindin assembles into the biogenesis of lysosome related organelles complex 1 (BLOC-1) suggests that it participates in intracellular trafficking and biogenesis of organelles and vesicles. Dysbindin is ubiquitous and in brain is expressed primarily in neurons. Variations at the dysbindin gene have been associated with increased risk for schizophrenia. As anomalies in retinal function have been reported in patients suffering from neuropsychiatric disorders, we investigated the expression of dysbindin in the retina. Our results show that differentially regulated dysbindin isoforms are expressed in rat retina during postnatal maturation. Interestingly, we found that dysbindin is mainly localized in M眉ller cells. The identification of dysbindin in glial cells may open new perspectives for a better understanding of the functional involvement of this protein in visual alterations associated to neuropsychiatric disorders.