Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging

Troina, Italy

Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging

Troina, Italy

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Caraci F.,University of Catania | Bosco P.,Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging | Signorelli M.,University of Catania | Spada R.S.,Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging | And 15 more authors.
European Neuropsychopharmacology | Year: 2012

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 30-40% of AD patients. The TGF-β1 gene contains single nucleotide polymorphisms (SNPs) at codon +. 10 (T/C) and +. 25 (G/C), which are known to influence the level of expression of TGF-β1.We investigated TGF-β1 +10 (T/C) and +25 (G/C) SNPs and allele frequencies in 131 sporadic AD patients and in 135 healthy age- and sex-matched controls. Genotypes of the TGF-β1 SNPs at codon +10 (T/C) and +25 (G/C) did not differ between AD patients and controls, whereas the allele frequencies of codon +10 polymorphism showed a significant difference (P=0.0306). We also found a different distribution of the +10 (C/C) phenotype (continuity-corrected χ 2 test with one degree of freedom=4.460, P=0.0347) between late onset AD (LOAD) patients and controls (P=0.0126), but not between early onset AD (EOAD) patients and controls. In addition, the presence of the C/C genotype increased the risk of LOAD regardless of the status of apolipoprotein E4 (odds ratio [OR]=2.34; 95% CI=1.19-4.59). Compared to patients bearing the T/T and C/T polymorphisms, LOAD TGF-β1 C/C carriers also showed >5-fold risk to develop depressive symptoms independently of a history of depression (OR=5.50; 95% CI=1.33-22.69). An association was also found between the TGF-β1 C/C genotype and the severity of depressive symptoms (HAM-D 17≥14) (P<0.05). These results suggest that the CC genotype of the TGF-β1 gene increases the risk to develop LOAD and is also associated with depressive symptoms in AD. © 2011 Elsevier B.V. and ECNP.


Salemi M.,IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging | Barone C.,IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging | Morale M.C.,IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging | Caniglia S.,IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging | And 5 more authors.
Neurological Sciences | Year: 2016

Down syndrome is characterized by dysmorphic features, mental retardation and problems of immune deficiency. Chronic infection by Epstein–Barr virus is frequently present in subjects with Down syndrome. Ksp37 gene is commonly expressed by NK, CD8+ T, γδ T and CD4+ T cells; these data suggest that Ksp37 have cytotoxic properties. An increase of Ksp37 protein serum levels it has been showed during the acute phase of Epstein–Barr virus. In this study, we evaluated the expression of Ksp37 mRNA, in fibroblasts and leukocytes of DS subjects and in normal subjects with realtime reverse transcription-PCR. This analysis shows that in fibroblasts and leukocytes of Down syndrome subjects the KSP37 gene expression was increased compared with control subjects. The results of this study suggest that the expression of Ksp37 gene might be associated with increased susceptibility of individuals with Down syndrome to EBV infections and autoimmune problems. © 2016, Springer-Verlag Italia.


Grosso G.,University of Catania | Galvano F.,University of Catania | Marventano S.,University of Catania | Malaguarnera M.,University of Catania | And 4 more authors.
Oxidative Medicine and Cellular Longevity | Year: 2014

The changing of omega-6/omega-3 polyunsaturated fatty acids (PUFA) in the food supply of Western societies occurred over the last 150 years is thought to promote the pathogenesis of many inflammatory-related diseases, including depressive disorders. Several epidemiological studies reported a significant inverse correlation between intake of oily fish and depression or bipolar disorders. Studies conducted specifically on the association between omega-3 intake and depression reported contrasting results, suggesting that the preventive role of omega-3 PUFA may depend also on other factors, such as overall diet quality and the social environment. Accordingly, tertiary prevention with omega-3 PUFA supplement in depressed patients has reached greater effectiveness during the last recent years, although definitive statements on their use in depression therapy cannot be yet freely asserted. Among the biological properties of omega-3 PUFA, their anti-inflammatory effects and their important role on the structural changing of the brain should be taken into account to better understand the possible pathway through which they can be effective both in preventing or treating depression. However, the problem of how to correct the inadequate supply of omega-3 PUFA in the Westernized countries' diet is a priority in order to set food and health policies and also dietary recommendations for individuals and population groups. © 2014 Giuseppe Grosso et al.


Bosco P.,Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging | Ferri R.,Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging | Salluzzo M.G.,Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging | Castellano S.,University of Catania | And 6 more authors.
Current Genomics | Year: 2013

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 been made to identify other genetic factors involved in the pathophysiology of LOAD such as genes associated with a deficit of neurotrophic factors in the AD brain. Genetic variations of neurotrophic factors, such as brain-derived neurotrophic factor (BDNF), and transforming-growth-factor-β1 (TGF-β1) are known to increase the risk to develop LOAD and have also been related to depression susceptibility in LOAD. Transforming-Growth-Factor-β1 (TGF- β1) is a neurotrophic factor that exerts neuroprotective effects against ß-amyloid-induced neurodegeneration. Recent evidence suggests that a specific impairment in the signaling of TGF-β is an early event in the pathogenesis of AD. TGF-β1 protein levels are predominantly under genetic control, and the TGF-β1 gene, located on chromosome 19q13.1-3, contains several single nucleotide polymorphisms (SNPs) upstream and in the transcript region, such as the SNP at codon +10 (T/C) and +25 (G/C), which is known to influence the level of expression of TGF-β1. In the present review, we summarize the current literature on genetic risk factors for LOAD, focusing on the role of the TGF-β1 gene, finally discussing the possible implications of these genetic studies for the selection of patients eligible for neuroprotective strategies in AD. ©2013 Bentham Science Publishers.


PubMed | IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging
Type: Journal Article | Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | Year: 2016

Down syndrome is characterized by dysmorphic features, mental retardation and problems of immune deficiency. Chronic infection by Epstein-Barr virus is frequently present in subjects with Down syndrome. Ksp37 gene is commonly expressed by NK, CD8(+)T, T and CD4(+)T cells; these data suggest that Ksp37 have cytotoxic properties. An increase of Ksp37 protein serum levels it has been showed during the acute phase of Epstein-Barr virus. In this study, we evaluated the expression of Ksp37 mRNA, in fibroblasts and leukocytes of DS subjects and in normal subjects with realtime reverse transcription-PCR. This analysis shows that in fibroblasts and leukocytes of Down syndrome subjects the KSP37 gene expression was increased compared with control subjects. The results of this study suggest that the expression of Ksp37 gene might be associated with increased susceptibility of individuals with Down syndrome to EBV infections and autoimmune problems.


PubMed | Irccs Associazione Oasi Maria Ss Institute For Research On Mental Retardation And Brain Aging
Type: Journal Article | Journal: Current genomics | Year: 2013

Late-onset Alzheimers 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 been made to identify other genetic factors involved in the pathophysiology of LOAD such as genes associated with a deficit of neurotrophic factors in the AD brain. Genetic variations of neurotrophic factors, such as brain-derived neurotrophic factor (BDNF), and transforming-growth-factor-1 (TGF-1) are known to increase the risk to develop LOAD and have also been related to depression susceptibility in LOAD. Transforming-Growth-Factor-1 (TGF-1) is a neurotrophic factor that exerts neuroprotective effects against -amyloid-induced neurodegeneration. Recent evidence suggests that a specific impairment in the signaling of TGF- is an early event in the pathogenesis of AD. TGF-1 protein levels are predominantly under genetic control, and the TGF-1 gene, located on chromosome 19q13.1-3, con-tains several single nucleotide polymorphisms (SNPs) upstream and in the transcript region, such as the SNP at codon +10 (T/C) and +25 (G/C), which is known to influence the level of expression of TGF-1. In the present review, we summarize the current literature on genetic risk factors for LOAD, focusing on the role of the TGF-1 gene, finally discussing the possible implications of these genetic studies for the selection of patients eligible for neuroprotective strategies in AD.

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