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1.
Transl Neurodegener ; 11(1): 25, 2022 04 21.
Article in English | MEDLINE | ID: mdl-35449079

ABSTRACT

Alzheimer's disease (AD) is a complex, heterogeneous, progressive disease and is the most common type of neurodegenerative dementia. The prevalence of AD is expected to increase as the population ages, placing an additional burden on national healthcare systems. There is a large need for new diagnostic tests that can detect AD at an early stage with high specificity at relatively low cost. The development of modern analytical diagnostic tools has made it possible to determine several biomarkers of AD with high specificity, including pathogenic proteins, markers of synaptic dysfunction, and markers of inflammation in the blood. There is a considerable potential in using microRNA (miRNA) as markers of AD, and diagnostic studies based on miRNA panels suggest that AD could potentially be determined with high accuracy for individual patients. Studies of the retina with improved methods of visualization of the fundus are also showing promising results for the potential diagnosis of the disease. This review focuses on the recent developments of blood, plasma, and ocular biomarkers for the diagnosis of AD.


Subject(s)
Alzheimer Disease , MicroRNAs , Alzheimer Disease/diagnosis , Alzheimer Disease/epidemiology , Alzheimer Disease/genetics , Amyloid beta-Peptides/metabolism , Biomarkers , Humans , Retina/metabolism , Retina/pathology
2.
Pharmacogenomics ; 22(8): 485-503, 2021 06.
Article in English | MEDLINE | ID: mdl-34018822

ABSTRACT

Major depressive disorder is connected with high rates of functional disability and mortality. About a third of the patients are at risk of therapy failure. Several pharmacogenetic markers especially located in CYP450 genes such as CYP2D6 or CYP2C19 are of relevance for therapy outcome prediction in major depressive disorder but a further optimization of predictive tools is warranted. The article summarizes the current knowledge on pharmacogenetic variants, therapy effects and side effects of important antidepressive therapeutics, and sheds light on new methodological approaches for therapy response estimation based on genetic markers with relevance for pharmacokinetics, pharmacodynamics and disease pathology identified in genome-wide association study analyses, highlighting polygenic risk score analysis as a tool for further optimization of individualized therapy outcome prediction.


Subject(s)
Antidepressive Agents/pharmacokinetics , Antidepressive Agents/therapeutic use , Depressive Disorder, Major/drug therapy , Depressive Disorder, Major/genetics , Genetic Markers/genetics , Genome/genetics , Cytochrome P-450 Enzyme System/genetics , Genome-Wide Association Study/methods , Humans , Pharmacogenetics/methods , Polymorphism, Single Nucleotide/genetics
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