scholarly journals Genetic Markers for Alzheimer's Disease

2015 ◽  
Vol 8 (2) ◽  
Author(s):  
Vanessa Gomes
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
The United States ◽  
Chromosome 21 ◽  
Maladie D’Alzheimer ◽  
Chromosome 19 ◽  
Department Of Health ◽  
Services Sociaux ◽  
App Gene

This report aims to inform on the progression of research into the genetic factors involved in the development of Alzheimer’s disease (AD). AD is a life-altering disease that affects millions of individuals from varying races and ethnic backgrounds1. According to the National Institute on Aging, a faculty of the U.S. Department of Health and Human Services, AD has been ranked as the third leading cause of death in the United States, only behind cancer and heart failure. It is predicted that by 2050, approximately one in 45 Americans will be afflicted with the disease5.            Distinctive physical indications of the onset of AD include neuron loss, amyloid plaques and neurofibrillary tangles5. Onset is not frequent prior to 60 years of age but can be caused by one of two reasons. The first is a mutation in the amyloid precursor protein (APP) gene on chromosome 21. This gene is responsible for the regulation of the production of amyloid beta (Aβ) proteins, which are known to be abundant in the brains of AD patients. A mutation in the gene leads to an inappropriate regulation of this protein. The second, and more common cause is a result of an unidentified gene on chromosome 14 in AD patients2. It has been confirmed that there is involvement of chromosome 19 in late onset AD (LOAD)  as well1. Most of the genes that are associated with the development of AD have yet to be identified, but the research is bringing society closer and closer to that goal everyday.Ce rapport vise à fournir de l’information sur la progression de la recherche au sujet des facteurs génétiques impliqués dans le développement de la maladie d'Alzheimer (MA). La MA est une maladie bouleversant la vie de la personne et qui affecte des millions d’individus de diverses races et ethnicité1. Selon l'Institut national sur le vieillissement, un corps professoral du département américain de la santé et des services sociaux, la MA a été classée comme la troisième cause de décès aux États-Unis, ne cédant le pas qu’au cancer et à l'insuffisance cardiaque. Il est prévu que d'ici l'an 2050, environ une personne sur 45 Américains sera affligée avec cette maladie5.Des indications visuelles distinctives de l'apparition de la MA comprennent la perte des neurones, les plaques amyloïdes et des enchevêtrements neurofibrillaires5. L'apparition précoce n’est pas fréquente avant 60 ans, mais peut être causée par l'une des deux raisons. La première raison est une mutation dans le gène de la protéine précurseur de l'amyloïde (PPA) sur le chromosome 21. Ce gène est responsable de la régulation de la production de protéines bêta-amyloïde (Aß), qui sont connues pour être abondant dans le cerveau des patients atteints de la MA. Une mutation dans le gène conduit à une régulation inappropriée de cette protéine. La seconde cause, et celle-là plus communes sont le résultat d'un gène inconnu sur le chromosome 142. Il a été confirmé qu'il y a aussi une participation du chromosome 19 dans l'apparition tardive de la MA (ATMA)1. La plupart des gènes qui sont associés avec le développement de la MA n’ont pas encore été identifiés, mais la recherche rapproche la société de cet objectif de plus en plus tous les jours.

scholarly journals Genetics of Alzheimer’s Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-13 ◽  
Author(s):  
Perry G. Ridge ◽  
Mark T. W. Ebbert ◽  
John S. K. Kauwe
Keyword(s):  
United States ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Association Studies ◽  
The United States ◽  
Complex Disorder ◽  
Genetic Components ◽  
Early Onset Alzheimer’S Disease

Alzheimer’s disease is the most common form of dementia and is the only top 10 cause of death in the United States that lacks disease-altering treatments. It is a complex disorder with environmental and genetic components. There are two major types of Alzheimer’s disease, early onset and the more common late onset. The genetics of early-onset Alzheimer’s disease are largely understood with variants in three different genes leading to disease. In contrast, while several common alleles associated with late-onset Alzheimer’s disease, including APOE, have been identified using association studies, the genetics of late-onset Alzheimer’s disease are not fully understood. Here we review the known genetics of early- and late-onset Alzheimer’s disease.

scholarly journals Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report

2019 ◽  
Vol 29 (4) ◽  
pp. 34464
Author(s):  
Kledson Moraes Nunes ◽  
Talísia Nascimento Vianez ◽  
Denise Corrêa Benzaquem ◽  
Natalia Dayane Moura Carvalho ◽  
Cleiton Fantin
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Chromosomal Abnormalities ◽  
Late Onset ◽  
Cognitive Disorder ◽  
Chromosome 21 ◽  
Chromosome 1 ◽  
Chromosome 15 ◽  
First Case ◽  
And Control

AIMS: To report the first case the concomitance of numerical chromosomal abnormalities with structural as well as chromosomal abnormalities structural in a patient diagnosed with Alzheimer disease in Manaus/Amazonas.CASE DESCRIPTION: A male patient with 76 years of age was diagnosed with diagnosis of cognitive disorder- Alzheimer’s disease with late onset - temporal variant after laboratory, physical and imaging exams. Cytogenetic analysis was requested for this patient, revealing the presence the concomitant of numerical and structural chromosomal abnormalities with metaphase cells composed of 45 chromosomes with the loss of one of the homologues of chromosome 21 (monosomy) and a deletion of the long arm of one of the homologues of chromosome 1 [45, XY, -21, del (1) (q?)] and metaphase cells containing 46 chromosomes with a deletion of the long arm of one of the homologues of chromosome 15 [(46, XY, del (15) (q?)]. Currently, the patient is in outpatient treatment for maintenance and control of the disease.CONCLUSIONS: Our study has underlined that karyotyping is one of the fundamental investigations for patients with Alzheimer’s disease. It highlighted, in the form of a chromosomal abnormality, may have been the risk factor in Alzheimer’s disease.

A new locus on chromosome 19 linked with late-onset Alzheimer's disease

Neuroreport ◽  
2001 ◽  
Vol 12 (17) ◽  
pp. 3759-3761 ◽  
Author(s):  
S. E. Poduslo ◽  
X. Yin
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Chromosome 19

Progress in Molecular Genetics of Alzheimer's Disease

1996 ◽  
Vol 2 (1) ◽  
pp. 3-6 ◽  
Author(s):  
Fuki M. Hisama ◽  
Gerard D. Schellenberg
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Positional Cloning ◽  
Age Of Onset ◽  
Late Onset ◽  
Chromosome 21 ◽  
Chromosome 1 ◽  
Amyloid Precursor Protein Gene ◽  
Chromosome 14

Recent intensive work has highlighted the genetic basis of several forms of Alzheimer's disease (AD). Mutations in the amyloid precursor protein gene on chromosome 21 can cause either an early-onset autosomal dominant AD or hereditary cerebral hemorrhage with amyloidosis. On chromosome 14, a second gene associated with 70 to 90% early-onset familial AD (FAD) was identified by positional cloning in 1995. Still other kindreds show no linkage to either chromosome 21 or chromosome 14; the third locus (on chromosome 1) was recently identified in affected descendants of a group of families known as the Volga Germans. In late-onset (age >65 years) AD, the apolipoprotein E gene allele ∊e4 on chromosome 19 has clearly been shown to be a risk factor for the development of AD and appears to modify the age of onset of the disease. The emerging picture is that AD is a genetically complex, heterogeneous disorder. Precisely how these genetic factors interact with each other and with other yet-to-be-identified genetic and nongenetic (environmental) factors to produce the clinical and pathologic findings in AD remains to be elucidated. The Neuroscientist 2:3–6, 1996

Effect of Gene Editing on Alzheimer's Disease

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Noha nageh mohamed ◽  
Maha mohammed sallam ◽  
Marwa Ali Abd El-Khalek ◽  
Mohamed Mahmoud Fouad
Keyword(s):  
Gene Expression ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cell Viability ◽  
Cell Line ◽  
Cause Of Death ◽  
Gene Editing ◽  
The United States ◽  
Amyloid Protein ◽  
App Gene

Abstract Background Alzheimer’s disease is an irreversible, progressive brain disorder that slowly destroys memory and thinking skills, and, eventually, the ability to carry out the simplest tasks. In most people with Alzheimer’s, symptoms first appear in their mid-60s. Current estimates suggest that 44 million people live with dementia worldwide at present. This is predicted to more than triple by 2050 as the population ages. Alzheimer’s disease is currently ranked as the sixth leading cause of death in the United States, but recent estimates indicate that the disorder may rank third, just behind heart disease and cancer, as a cause of death for older people Treatment is currently targeted toward symptomatic therapy, although trials are underway that aim to reduce the production and overall burden of pathology within the brain. Recently, the Clustered Regular Interspaced Short Palindromic Repeats (CRISPR-cas9) has shown promise in certain neurological disorders, it provides a precise editing to human genome and reflect an efficient curative therapy. We aimed to investigate the efficacy of knock-out of the APP gene “Amyloid precursor protein gene(APBA2)that consequently modify the expression of Amyloid protein in leucocytes cell line using CRISPR-cas9 technology. Methods The gene expression profile of Alzheimer's disease was downloaded from biological bioinformatics databases,and based on bioinformatics analysis, we figured out that APP gene was overexpressed in Alzheimer's disease in both brain and peripheral tissues such as plasma, fibroblast and PMNLs. We used PMNLs as the source of gene for edition in our study .We knocked out the APP gene in leucocytes cell lines using CRISPR-cas9 technology. Finally, the gene editing efficacy was evaluated by cell viability assay, the gene expression was measured by qPCR and the Amyloid protein expression was proved by Immunofluorescence. Results knockout of APP gene int Leucocytes Cell line resulted in reduction in cell viability that was associated with marked reduction in the amyloid protein and gene expressions. Conclusion knockout of APP(APBA2) gene represents a promising therapeutic strategy in Alzheimer's disease.

scholarly journals Good problems to have? Policy and societal implications of a disease-modifying therapy for presymptomatic late-onset Alzheimer’s disease

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Misha Angrist ◽  
Anna Yang ◽  
Boris Kantor ◽  
Ornit Chiba-Falek
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Gene Editing ◽  
Late Onset ◽  
The United States ◽  
Societal Implications ◽  
Track Record ◽  
Disease Modifying Therapy ◽  
The Us ◽  
Disease Modifying

Abstract In the United States alone, the prevalence of AD is expected to more than double from six million people in 2019 to nearly 14 million people in 2050. Meanwhile, the track record for developing treatments for AD has been marked by decades of failure. But recent progress in genetics, neuroscience and gene editing suggest that effective treatments could be on the horizon. The arrival of such treatments would have profound implications for the way we diagnose, triage, study, and allocate resources to Alzheimer’s patients. Because the disease is not rare and because it strikes late in life, the development of therapies that are expensive and efficacious but less than cures, will pose particular challenges to healthcare infrastructure. We have a window of time during which we can begin to anticipate just, equitable and salutary ways to accommodate a disease-modifying therapy Alzheimer’s disease. Here we consider the implications for caregivers, clinicians, researchers, and the US healthcare system of the availability of an expensive, presymptomatic treatment for a common late-onset neurodegenerative disease for which diagnosis can be difficult.

scholarly journals Aplysia Neurons as a Model of Alzheimer’s Disease: Shared Genes and Differential Expression

2021 ◽  
Author(s):  
Nicholas S. Kron ◽  
Lynne A. Fieber
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Differential Expression ◽  
Late Onset ◽  
The United States ◽  
Data Sets ◽  
Model Of Alzheimer’S Disease ◽  
Neuronal Processes ◽  
Cellular Cargo Transport ◽  
Upregulated Genes

AbstractAlthough Alzheimer’s disease (AD) is the most common form of dementia in the United States, development of therapeutics has proven difficult. Invertebrate alternatives to current mammalian AD models have been successfully employed to study the etiology of the molecular hallmarks of AD. The marine snail Aplysia californica offers a unique and underutilized system in which to study the physiological, behavioral, and molecular impacts of AD. Mapping of the Aplysia proteome to humans and cross-referencing with two databases of genes of interest in AD research identified 898 potential orthologs of interest in Aplysia. Included among these orthologs were alpha, beta and gamma secretases, amyloid-beta, and tau. Comparison of age-associated differential expression in Aplysia sensory neurons with that of late-onset AD in the frontal lobe identified 59 ortholog with concordant differential expression across data sets. The 21 concordantly upregulated genes suggested increased cellular stress and protein dyshomeostasis. The 47 concordantly downregulated genes included important components of diverse neuronal processes, including energy metabolism, mitochondrial homeostasis, synaptic signaling, Ca++ regulation, and cellular cargo transport. Compromised functions in these processes are known hallmarks of both human aging and AD, the ramifications of which are suggested to underpin cognitive declines in aging and neurodegenerative disease.

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