Fragile X Syndrome and Alzheimers Disease: Another Story About APP and β -Amyloid
نویسندگان
چکیده
منابع مشابه
Fragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
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Amyloid-beta protein precursor (APP) and metabolite levels are altered in fragile X syndrome (FXS) patients and in the mouse model of the disorder, Fmr1KO mice. Normalization of APP levels in Fmr1KO mice (Fmr1KO /APPHET mice) rescues many disease phenotypes. Thus, APP is a potential biomarker as well as therapeutic target for FXS. Hyperexcitability is a key phenotype of FXS. Herein, we determin...
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Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
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Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...
متن کاملProtein–RNA Interaction Links Fragile X Syndrome and Alzheimer Disease
0378 No two brain diseases would seem to be more different than Alzheimer disease (AD) and fragile X syndrome (FXS). AD affects the old, while FXS occurs in childhood. AD affects about 4 million Americans of both sexes, while FXS affects fewer than 50,000, primarily boys. And while the cause of most cases of AD is unknown, the gene responsible for virtually every case of FXS has been known for ...
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ژورنال
عنوان ژورنال: Current Alzheimer Research
سال: 2010
ISSN: 1567-2050
DOI: 10.2174/156720510791050957