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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
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Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
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Genetic study evaluating LDLR polymorphisms and Alzheimer's disease.

R Lämsä1, S Helisalmi, S-K Herukka

  • 1Clinical Department, Unit of Neurology, Brain Research Unit, Clinical Research Center, Mediteknia, University of Kuopio, Finland. riikka.lamsa@uku.fi

Neurobiology of Aging
|January 24, 2007
PubMed
Summary

Genetic variations in the LDLR gene may influence Alzheimer's disease (AD) risk and its biomarkers, particularly in women. Specific genetic markers were associated with altered levels of key AD-related proteins in cerebrospinal fluid.

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Area of Science:

  • Genetics
  • Neuroscience
  • Biomarkers

Background:

  • Alzheimer's disease (AD) is a complex neurodegenerative disorder with a significant genetic component.
  • Identifying genetic factors associated with AD risk and its underlying biological mechanisms is crucial for developing effective interventions.

Purpose of the Study:

  • To investigate the association between specific single nucleotide polymorphisms (SNPs) and haplotypes in the LDLR gene and Alzheimer's disease risk.
  • To explore the relationship between these genetic variations and cerebrospinal fluid (CSF) biomarkers of AD, including Abeta(42), tau, and phosphorylated tau (ptau).

Main Methods:

  • Genotyping of six SNPs (rs11668477, rs12983082, rs11669576, rs2738444, rs5925, rs1433099) in 405 Finnish AD cases and 463 controls.
  • Analysis of single allele and genotypic distributions, haplotype frequency estimation, and evaluation of CSF biomarker levels (Abeta(42), tau, ptau) in relation to genetic findings.

Main Results:

  • The T allele of SNP rs2738444 was overrepresented in women with AD (p=0.014).
  • A specific haplotype (GTT) formed by SNPs rs11669576, rs2738444, and rs5925 was significantly overrepresented in women with AD (p=0.008).
  • This GTT haplotype was associated with increased tau and ptau levels and decreased Abeta(42) levels in women, and increased tau and ptau in both sexes.

Conclusions:

  • The LDLR gene may play a role in Alzheimer's disease susceptibility and its associated CSF biomarkers, particularly in women.
  • Specific genetic variations and haplotypes within the LDLR gene are linked to altered AD biomarker profiles, suggesting a potential mechanism for LDLR's involvement in AD pathogenesis.