Serotonin Transporter Gene Polymorphism and BPSD in Mild Alzheimer's Disease

Ueki, Akinori; Ueno, Hideo; Sato, Noriko; Shinjo, Hidetaka; Morita, Yoshio

doi:10.3233/jad-2007-12306

Cited by 39 publications

(23 citation statements)

References 32 publications

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“…HTTLPR variants have been associated with depression (10), bipolar disorder (11), symptoms of Alzheimer's disease (12) and may act through a decrease in transcriptional activity of the gene in patients with the shorter allele (13). STin2 has been associated with schizophrenia (14), depression (15), symptoms of Alzheimer's disease (12,16) and treatment outcome in alcohol dependent patients (17). …”

Section: Introductionmentioning

confidence: 99%

VNTRseek—a computational tool to detect tandem repeat variants in high-throughput sequencing data

Gelfand¹,

Hernández²,

Loving³

et al. 2014

Nucleic Acids Res

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DNA tandem repeats (TRs) are ubiquitous genomic features which consist of two or more adjacent copies of an underlying pattern sequence. The copies may be identical or approximate. Variable number of tandem repeats or VNTRs are polymorphic TR loci in which the number of pattern copies is variable. In this paper we describe VNTRseek, our software for discovery of minisatellite VNTRs (pattern size ≥ 7 nucleotides) using whole genome sequencing data. VNTRseek maps sequencing reads to a set of reference TRs and then identifies putative VNTRs based on a discrepancy between the copy number of a reference and its mapped reads. VNTRseek was used to analyze the Watson and Khoisan genomes (454 technology) and two 1000 Genomes family trios (Illumina). In the Watson genome, we identified 752 VNTRs with pattern sizes ranging from 7 to 84 nt. In the Khoisan genome, we identified 2572 VNTRs with pattern sizes ranging from 7 to 105 nt. In the trios, we identified between 2660 and 3822 VNTRs per individual and found nearly 100% consistency with Mendelian inheritance. VNTRseek is, to the best of our knowledge, the first software for genome-wide detection of minisatellite VNTRs. It is available at http://orca.bu.edu/vntrseek/.

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Section: Introductionmentioning

confidence: 99%

VNTRseek—a computational tool to detect tandem repeat variants in high-throughput sequencing data

Gelfand¹,

Hernández²,

Loving³

et al. 2014

Nucleic Acids Res

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“…Furthermore, the Cys23Ser polymorphism within the 5-HT2C receptor gene was significantly associated with visual hallucinations and hyperphagia in another sample of AD patients. In the same view, a 44-base pair insertion of the 5-HTTPRL gene was reported to be associated with psychosis and aggression [70][71][72][73][74], and a 5-HTT variable number of tandem repeats sequence, namely 5-HTTVNTR allele 10, was significantly related to the presence of BPSD or aggressiveness [75]. Further studies are needed [76].…”

Section: Genetic Basis Of Psychosis In Alzheimer Diseasementioning

confidence: 95%

Genetic Susceptibility to Behavioural and Psychological Symptoms in Alzheimer Disease

Borroni

Costanzi²,

Padovani

2010

CAR

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Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive cognitive decline including loss of memory, orientation and reasoning. However, a relevant aspect of AD is the presence of a variety of behavioural and psychological symptoms in dementia (BPSD), beyond the well-known progressive cognitive impairment. Approximately 50% to 80% of patients diagnosed with AD present behavioural or psychiatric disturbances such as psychosis, depression, agitation, disinhibition, aggression, hyperactivity, and socially intrusive behaviours. These symptoms may be burdensome for physicians and caregivers and lead to earlier institutionalization and increased social and economic costs. In this view, recent literature has considered the likely genetic component of BPSD in AD, defining different clusters. Several studies have investigated whether the main recognised genetic risk factor for late-onset AD, namely the apolipoprotein E (APOE) gene, is associated with BPSD, with conflicting results. The involvement of dopamine- or serotonin-related pathways and associated genetic variabilities has been demonstrated as being interesting candidates for the neuropsychiatry manifestations of dementia. Moreover, genetic variations of neurotrophins, such as brain-derived neurotrophic factor (BDNF), have been related to depression susceptibility in AD. In the present review, we summarise the current literature on genetic risk factors to BPSD susceptibility in AD and discuss future possible treatment strategies.

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“…This discrepancy may not be surprising since delusions are strongly related to the incidence of resistiveness to care that is often interpreted as "aggression" (6). Similarly, two studies found relationship between polymorphism of 5-HT transporter that may result in increased reuptake of 5-HT and "aggressive" behavior (19,20) while one study found relationship only with psychosis (21). The relationship between serotoninergic function and "aggressive" behavior may not be unique for AD because decreased serotoninergic modulation of the dopaminergic activity was correlated with "aggression" and agitation in frontotemporal dementia.…”

Section: Figurementioning

confidence: 95%

Can dietary intervention help in management of problem behaviors in dementia?

Volicer

2009

The Journal of nutrition, health and aging

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Behavioral symptoms of dementia are often more distressing to family caregivers than cognitive impairments and may lead to need for institutionalization. It is possible to distinguish two types of behavioral symptoms: disturbing and non-disturbing ( Fig. 1). The main non-disturbing symptom is apathy that the most common behavioral symptom in individuals with dementia (1) and is often not treated because apathetic individuals pose little problem for their caregivers. However, presence of apathy is decreasing quality of life and functional abilities (2) and increases irritability (3). Presence of apathy should be addressed by psychosocial interventions such as structured activities, music therapy (4), or multisensory behavior therapy (Snoezelen) (5).

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Serotonin Transporter Gene Polymorphism and BPSD in Mild Alzheimer's Disease

Cited by 39 publications

References 32 publications

VNTRseek—a computational tool to detect tandem repeat variants in high-throughput sequencing data

VNTRseek—a computational tool to detect tandem repeat variants in high-throughput sequencing data

Genetic Susceptibility to Behavioural and Psychological Symptoms in Alzheimer Disease

Can dietary intervention help in management of problem behaviors in dementia?

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