Maria Grazia Salluzzo

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Transforming growth factor-β1 (TGF-β1) is a neurotrophic factor that exerts neuroprotective effects against β-amyloid-induced neurodegeneration. Recently, a specific impairment of the TGF-β1 signaling pathway has been demonstrated in Alzheimer's disease (AD) brain. TGF-β1 is also involved in the pathogenesis of depressive disorders, which may occur in(More)
1Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina 94018, Italy 2Unit of Pediatrics and Medical Genetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina 94018, Italy 3Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of(More)
INTRODUCTION Alzheimer's disease (AD) is characterized by progression of memory problems to a slow global decline of cognitive function. Inflammation when left unregulated becomes a major cofactor in the pathogenesis of AD. PTGS2 is of crucial relevance in the inflammatory response, and it has been shown to play a considerable role in AD pathogenesis. (More)
We collected blood DNA from 120 late-onset Alzheimer's disease (AD) patients and 115 healthy matched controls and analysed the methylation levels of genes involved in amyloid-beta peptide production (PSEN1 and BACE1), in DNA methylation (DNMT1, DNMT3A and DNMT3B), and in one-carbon metabolism (MTHFR), searching for correlation with age and gender, with(More)
Down syndrome (DS) is a chromosomal disorder caused by chromosome 21 trisomy and is the most frequent genetic cause of intellectual disability. The gene for the kinesin family member 21A (KIF21A), is a member of the kinesin superfamily involved in the anterograde fast axonal transport. In this study, we have evaluated the possible differential expression of(More)
Down’s syndrome (DS) is one of the most common numerical chromosomal aberrations, usually caused by trisomy of chromosome 21, and is the most frequent genetic cause of mental retardation. People with DS can develop some traits of Alzheimer disease at an earlier age than subjects without trisomy 21 (Wisniewski et al. 1985). It may be assumed that these(More)
Late-onset Alzheimer's disease (LOAD) is the most common form of dementia in the elderly. LOAD has a complex and largely unknown etiology with strong genetic determinants. Genetics of LOAD is known to involve several genetic risk factors among which the Apolipoprotein E (APOE) gene seems to be the major recognized genetic determinant. Recent efforts have(More)
Alzheimer’s disease (AD) is a neurodegenerative disease with progressive deterioration of comprehensive cognition and loss of memory, it is characterized by extensive neuronal loss, senile plaques and neurofibrillary tangles. Four principal genes have been implicated in the etiology of AD: the amyloid precursor protein (APP), apolipoprotein E (ApoE), and(More)
Down’s syndrome (DS), the most common chromosomal disorder, is caused by 21 trisomy and is featured by intellectual disability. Subjects with DS can develop some traits of Alzheimer disease (AD) at an earlier age than subjects without trisomy 21. Apoptosis is a programmed cell death process under both normal physiological and pathological conditions.(More)
In the present study, we analysed a 31bp variable number of tandem repeats (VNTR) of the cystathionine ß-synthase (CBS) gene in 427 subjects: 127 patients with Down syndrome (DS) and in 60 of their mothers; 172 age-and sex-matched controls and in 68 of their mothers. A significant statistical difference in the distribution of the 21 repeat allele was found(More)