The genetic epidemiology of neurodegenerative disease

Bertram, Lars; Tanzi, Rudolph E.

doi:10.1172/jci24761

Cited by 549 publications

(367 citation statements)

References 96 publications

Supporting

Mentioning

359

Contrasting

Unclassified

Order By: Relevance

“…Several studies supported this relation. (Blacker et al 1998;Hollenbach et al 1998;Luedecking-Zimmer et al 2003;Bertram and Tanzi 2005). Poduslo et al (2001) showed that placing the disease between the markers D12S364 and D12S78 including the VDR gene (12q12-q14) gave the highest Lod scores.…”

Section: Discussionmentioning

confidence: 99%

Association between Vitamin D Receptor Gene Polymorphism and Alzheimer's Disease

Gezen-Ak

Dursun

Ertan

et al. 2007

Tohoku J. Exp. Med.

138

View full text Add to dashboard Cite

Vitamin D 3 is known to be involved in neuroprotection and exert its neuroprotective effects by modulating neuronal calcium homeostasis and production of neurotrophins. The single nucleotide polymorphisms (SNP) in vitamin D receptor (VDR) gene which can influence the affinity of vitamin D 3 to its receptor may be related to neurodegenerative diseases and neuronal damage by altering the vitamin D-mediated pathways. In this study, our aim was to determine whether there is an association between VDR gene and lateonset Alzheimer's disease (AD) in order to see if vitamin D contributes to AD or not. One hundred and four cases of dementia of Alzheimer type and 109 age-matched controls were genotyped according to ApaI (a: + restriction site and A: no restriction site) and TaqI (t: + restriction site and T: no restriction site) sites in intron 8 and exon 9 of the ligand-binding site of VDR gene. When the controls and patients were compared for their ApaI genotypes, the frequency of the patients with Aa genotype was significantly higher than the frequency of the healthy individuals with the same genotype ( p = 0.008, χ 2 = 9.577, OR = 2.30). Thus, the "Aa" genotype may increase the risk of developing AD 2.3 times when compared with the "AA" genotype. On the other hand, the "AT" haplotype was significantly higher in controls ( p = 0.006) indicating a protective role of the "AT" haplotype in AD. Consequently, this study provides evidence for a possible link between AD and vitamin D. vitamin D; VDR; Alzheimer's disease; SNP; haplotype © 2007 Tohoku University Medical PressThe most common form of degenerative dementia is Alzheimer's disease (AD) constituting approximately 60-70% of cases (Emilien et al. 2004). It is a chronic, degenerative, dementing illness with typically insidious onset (Rocca et al. 1991). The key aims in therapeutic strategies of AD are to decrease the neuronal damage, provide maintenance or regeneration of neu r o n s

show abstract

Section: Discussionmentioning

confidence: 99%

Association between Vitamin D Receptor Gene Polymorphism and Alzheimer's Disease

Gezen-Ak

Dursun

Ertan

et al. 2007

Tohoku J. Exp. Med.

138

View full text Add to dashboard Cite

show abstract

“…The pathogenesis of ND is complex and remains mostly unknown. 16 Because of the inaccessibility of human brain, a growing number of studies have been performed in animal models. 17,18 In the 'pre-genomic era' , only a small subset of causative genes for ND had been identified by linkage analyses followed by positional cloning.…”

Section: Introductionmentioning

confidence: 99%

RNA-Seq and human complex diseases: recent accomplishments and future perspectives

et al. 2012

View full text Add to dashboard Cite

“…It is suggested that chronic infections in the central nervous system (CNS) might be associated with progressive neurodegeneration and/or neurobehavioral abnormalities [1][2][3][4] . Prolonged CNS infections with neurotropic pathogens, along with other underlying conditions such as autoimmune responses, vascular diseases, head injury, cerebral edema, changes in neurotransmitter concentrations, nutritional deficiencies, heavy metal poisoning, and effects of environmental toxins, might play roles in the pathogenesis of neurodegenerative and/or neurobehavioral diseases [5][6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

Interactions between neurotropic pathogens, neuroinflammatory pathways, and autophagic neural cell death

Sahu¹,

Ter²

2018

View full text Add to dashboard Cite

In recent times, there has been a significant increase in studies focusing on immunological functions of autophagy, however, knowledge of its roles and regulations in the central nervous system remains unclear. Present reviews highlight the molecular cross talk between host cell autophagy with inflammatory pathways in the context of neuro-infections. Intracellular pathogens might have an ability to manipulate the autophagy regulation process. An augmented autophagy and inflammation at the site of infection is traditionally considered host protective. Moreover, host cell autophagy might also facilitate pathogen survivability and multiplication in the brain environment. Consequently, an excessive autophagy and neuroinflammatory process do put surrounding healthy brain tissue at risk of pathogen invasion. The question arises, whether there are any known direct interactions of intracellular neurotropic pathogens with this degradative pathway that favour intracerebral pathogen survival and growth? It is worth exploring any such cooperation between pathogen factors and altered immune pathways that modulate autophagy regulatory genes causing massive neuronal damage. A detailed understanding of molecular mechanisms in microbial pathogenesis, neuroinflammatory and neuronal autophagy pathways might identify novel therapeutic targets and diagnostic biomarkers.

show abstract

The genetic epidemiology of neurodegenerative disease

Cited by 549 publications

References 96 publications

Association between Vitamin D Receptor Gene Polymorphism and Alzheimer's Disease

Association between Vitamin D Receptor Gene Polymorphism and Alzheimer's Disease

RNA-Seq and human complex diseases: recent accomplishments and future perspectives

Interactions between neurotropic pathogens, neuroinflammatory pathways, and autophagic neural cell death

Contact Info

Product

Resources

About