Title:a Novel Cisd2 Intragenic Deletion, Optic Neuropathy and Platelet Aggregation Defect in Wolfram Syndrome Type 2
نویسندگان
چکیده
Enza Mozzillo ([email protected]) Maurizio Delvecchio ([email protected]) Massimo Carella ([email protected]) Elvira Grandone ([email protected]) Pietro Palumbo ([email protected]) Alessandro Salina ([email protected]) Concetta Aloi ([email protected]) Pietro Buono ([email protected]) Antonella Izzo ([email protected]) Giuseppe D'Annunzio ([email protected]) Gennaro Vecchione ([email protected]) Ada Orrico ([email protected]) Rita Genesio ([email protected]) Francesca Simonelli ([email protected]) Adriana Franzese ([email protected])
منابع مشابه
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with Wolfra...
متن کاملOPINION Wolfram syndrome 1 and Wolfram syndrome 2: clinical implications for pediatricians
Purpose of review Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the end...
متن کاملGenetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease
Wolfram syndrome (WFS) is a progressive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS1 and WFS2 are caused by recessive mutations in the genes Wolfram Syndrome 1 (WFS1) and CDGSH iron sulfur domain 2 (CISD2), respectively. To explore the function of CISD2, we performed genetic studies in flies with altered expression of its Dr...
متن کاملCisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is a previously uncharacterized novel gene. Significantly, the CISD2 gene is located on human chromosome 4q, where a genetic component for longevity maps. Here we show for the first time that CISD2 is involved in mammalian life-span control. Cisd2 deficiency in mice causes mitochondrial breakdown and dysfunction accompanied by autophagic ...
متن کاملBcl-2-associated autophagy regulator Naf-1 required for maintenance of skeletal muscle.
Nutrient-deprivation autophagy factor-1 (NAF-1) was identified as an endoplasmic reticulum (ER) BCL-2-interacting protein, which functions to mediate the ability of ER BCL-2 to antagonize Beclin 1-dependent autophagy and depress ER calcium stores. In humans, a point mutation in Naf-1 (synonyms: Cisd2, Eris, Miner1 and Noxp70) is responsible for the neurodegenerative disorder Wolfram Syndrome 2....
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