Alzheimer’s disease(AD)is a primary cause of dementia.AD is a neurodegenerative disorder,characterized by synapses loss,extracellular amyloid plaques composed of the amyloid-βpeptide(Aβ)and intracellular aggregates...Alzheimer’s disease(AD)is a primary cause of dementia.AD is a neurodegenerative disorder,characterized by synapses loss,extracellular amyloid plaques composed of the amyloid-βpeptide(Aβ)and intracellular aggregates of hyperphosphorylated tau protein.AD is a complex disease linked to multiple interacting factors,both environmental and genetic,which can contribute to the onset and severity of the disease.Longitudinal studies have highlighted several cardiovascular risk factors that can increase the risk of AD.The genetic landscape of AD has changed dramatically in recent decades.Early studies identified mutations in the amyloid precursor protein gene(APP)as well as proteins that are involved in the enzymatic cleavage of APP to toxicβ-amyloid(Aβ),namely presenilin-1 and presnilin-2.However,these mutations were found in familial cases of early-onset AD,while the causes of sporadic late-onset AD are still unknown.The latest advances in Genomewide Association Studies(GWAS),sequencing,and bioinformatics have begun to unravel the complex genetic architecture of the sporadic form of AD.GWAS were able to uncover common variants with high frequency in the population that individually carried low risk(Robinson et al.,2017).The advent of next-generation and thirdgeneration sequencing platforms shows great promise in further unravelling the genetics of AD.展开更多
Mutations in the eIF2B gene cause the VWM disease. Genetic and biochemical data of MS patient and MRI data showing VWM images similar to MS lesions, encouraged the present study in which we analyzed the eIF2B5 gene in...Mutations in the eIF2B gene cause the VWM disease. Genetic and biochemical data of MS patient and MRI data showing VWM images similar to MS lesions, encouraged the present study in which we analyzed the eIF2B5 gene in 225 unrelated MS patients to evaluate an overlapping between MS and VWM. A common variation Ile587Val was found very frequent in the MS patients respect normal controls, thus suggesting that Ile587Val should be considered as susceptibility factor in the development of MS. In conclusion, our data strongly highlight a possible involvement of the eIF2B5 in the development of MS.展开更多
文摘Alzheimer’s disease(AD)is a primary cause of dementia.AD is a neurodegenerative disorder,characterized by synapses loss,extracellular amyloid plaques composed of the amyloid-βpeptide(Aβ)and intracellular aggregates of hyperphosphorylated tau protein.AD is a complex disease linked to multiple interacting factors,both environmental and genetic,which can contribute to the onset and severity of the disease.Longitudinal studies have highlighted several cardiovascular risk factors that can increase the risk of AD.The genetic landscape of AD has changed dramatically in recent decades.Early studies identified mutations in the amyloid precursor protein gene(APP)as well as proteins that are involved in the enzymatic cleavage of APP to toxicβ-amyloid(Aβ),namely presenilin-1 and presnilin-2.However,these mutations were found in familial cases of early-onset AD,while the causes of sporadic late-onset AD are still unknown.The latest advances in Genomewide Association Studies(GWAS),sequencing,and bioinformatics have begun to unravel the complex genetic architecture of the sporadic form of AD.GWAS were able to uncover common variants with high frequency in the population that individually carried low risk(Robinson et al.,2017).The advent of next-generation and thirdgeneration sequencing platforms shows great promise in further unravelling the genetics of AD.
文摘Mutations in the eIF2B gene cause the VWM disease. Genetic and biochemical data of MS patient and MRI data showing VWM images similar to MS lesions, encouraged the present study in which we analyzed the eIF2B5 gene in 225 unrelated MS patients to evaluate an overlapping between MS and VWM. A common variation Ile587Val was found very frequent in the MS patients respect normal controls, thus suggesting that Ile587Val should be considered as susceptibility factor in the development of MS. In conclusion, our data strongly highlight a possible involvement of the eIF2B5 in the development of MS.
