The study of genetic polymorphisms related to serotonin in Alzheimer's disease: a new perspective in a heterogenic disorder

Oliveira, João Ricardo Mendes de; Zatz, Mayana

doi:10.1590/s0100-879x1999000400014

Cited by 10 publications

(2 citation statements)

References 38 publications

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“…Foi observado por Li et al 82 e confirmado por Oliveira et al 83 e Hu et al 84 que o alelo "curto" (deleção, ou del) foi encontrado com frequência diminuída em pacientes brasileiros e alemães com DA e que essa influência foi independente do genótipo da APOE.…”

Section: Gene Do Transportador Da Serotonina (5htt)unclassified

Influência genética sobre a doença de Alzheimer de início tardio

Barros¹,

Lucatelli²,

Maluf³

et al. 2009

Rev. psiquiatr. clín.

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RESUMOContexto: A doença de Alzheimer de início tardio (DAIT) representa a maior parte dos casos de doença de Alzheimer (DA). Objetivo: Revisar resultados relevantes para genes candidatos e de suscetibilidade para a DAIT. Métodos: Revisão bibliográfica, a partir de 1990, empregando os bancos de dados PubMed e SciELO. Resultados: Polimorfismos genéticos são mais relevantes para a DAIT que mutações, sendo que o alelo E*4 do gene APOE é o maior fator de risco conhecido até o momento. No entanto, outros genes vêm sendo investigados e existem dados disponíveis sobre a relação com DAIT para os genes da apolipoproteína CI, alfa-1-antiquimiotripsina, receptor sigma tipo 1, enzima conversora de angiotensina, alfa 2-macroglobulina, proteína relacionada ao receptor de LDL, interleucina 1 alfa e beta, paraoxonase, transportador de serotonina e receptores de serotonina. Conclusões: A DAIT tem etiologia multifatorial e um grande número de marcadores genéticos influencia em seu desenvolvimento. Essas variantes precisam ser investigadas na população brasileira, cuja formação étnica é distinta daquela de populações norte-americanas e europeias. Somente assim será possível a determinação do perfil genético de risco, que facilitará a detecção de indivíduos com maior probabilidade de desenvolver a doença.Barros AC, et al. / Rev Psiq Clín. 2009;36(1):16-24 Palavras-chave: Doença de Alzheimer de início tardio, polimorfismos, estudos de associação. ABSTRACTBackground: Late Onset Alzheimer's disease (LOAD) represents the majority of cases of Alzheimer's disease. Objectives: To review relevant results to candidate and susceptibility genes related to LOAD. Methods: Bibliographic review, starting from 1990, utilizing PubMed and SciELO data banks. Results: Genetic polymorphisms are more relevant for LOAD than mutations, and E*4 allele of APOE gene is the major risk factor known until now. Neverthless, other genes are being investigated and data are available about the relation with LOAD to the genes coding for apolipoprotein CI, antichymotrypsin, sigma receptor type 1, angiotensin converting enzyme, alfa 2-macroglobulin, LDL receptor related protein, interleucin 1 alfa and beta, paraoxonase, serotonin transpor ter and serotonin receptors. Conclusions: LOAD presents multifactorial etiology, and a broad number of genetic markers inter feres with its development. They should be fur ther pursued in the Brazilian population, in which ethnic background is distinct from Nor th-american and European populations. Only with this data, a determination of the genetic risk profile will be feasible, and will improve the detection of the individuals at greater probability of developing the disease.

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Section: Gene Do Transportador Da Serotonina (5htt)unclassified

Influência genética sobre a doença de Alzheimer de início tardio

Barros¹,

Lucatelli²,

Maluf³

et al. 2009

Rev. psiquiatr. clín.

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“…Nevertheless, studies with polymorphisms related with serotonin, involving receptors, transporters, and enzymatic machinery, enhanced our knowledge about specific pathological mechanisms involved at this neuropsychiatric condition (Oliveira and Zatz 1999b).…”

Section: Case-control Studiesmentioning

confidence: 99%

The Genetics of Alzheimer’s Disease in Brazil: 10 Years of Analysis in a Unique Population

et al. 2008

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Alzheimer's Disease (AD) is the most common type of dementia among the elderly, with devastating consequences for the patient, their relatives, and caregivers. More than 300 genetic polymorphisms have been involved with AD, demonstrating that this condition is polygenic and with a complex pattern of inheritance. This paper aims to report and compare the results of AD genetics studies in case-control and familial analysis performed in Brazil since our first publication, 10 years ago. They include the following genes/markers: Apolipoprotein E (APOE), 5-hidroxytryptamine transporter length polymorphic region (5-HTTLPR), brain-derived neurotrophin factor (BDNF), monoamine oxidase A (MAO-A), and two simple-sequence tandem repeat polymorphisms (DXS1047 and D10S1423). Previously unpublished data of the interleukin-1alpha (IL-1alpha) and interleukin-1 beta (IL-1beta) genes are reported here briefly. Results from others Brazilian studies with AD patients are also reported at this short review. Four local families studied with various markers at the chromosome 21, 19, 14, and 1 are briefly reported for the first time. The importance of studying DNA samples from Brazil is highlighted because of the uniqueness of its population, which presents both intense ethnical miscegenation, mainly at the east coast, but also clusters with high inbreeding rates in rural areas at the countryside. We discuss the current stage of extending these studies using high-throughput methods of large-scale genotyping, such as single nucleotide polymorphism microarrays, associated with bioinformatics tools that allow the analysis of such extensive number of genetics variables, with different levels of penetrance. There is still a long way between the huge amount of data gathered so far and the actual application toward the full understanding of AD, but the final goal is to develop precise tools for diagnosis and prognosis, creating new strategies for better treatments based on genetic profile.

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The role of cochlear neurotransmitters in tinnitus

Mazurek

Stöver

Haupt

et al. 2007

HNO

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Pathologic changes in the cochlear neurotransmission, e.g. as a result of intensive noise exposure or ototoxic drugs, can be a factor in the development of tinnitus. The efficiency of inhibitory and excitatory neurotransmitters may then be modulated at the switching points. Glutamate is the most important afferent neurotransmitter within the inner ear. A massive glutamate release induced by cochlear damage may result in excitotoxicity and irrevocable cell death. Efferent cochlear neurotransmitters include dopamine, gamma aminobutyric acid (GABA), acetylcholine (ACH) and serotonin. Dopamine and GABA are inhibitory transmitters that may protect the cochlea from excitotoxicity. ACH, like GABA, reduces the stiffness of the outer hair cells and increases their motility. Serotonin is a neuromodulator of the cholinergic and GABAergic innervation within the cochlea and can inhibit glutamatergic impulses. Our understanding of neurotransmission in the cochlea has been extended by advances in molecular biology, which has given rise to new approaches in the treatment of tinnitus. As there are several types of tinnitus, differing in aetiology and development, our present challenge is to achieve precise identification of the cause in individual cases of tinnitus.

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The study of genetic polymorphisms related to serotonin in Alzheimer's disease: a new perspective in a heterogenic disorder

Cited by 10 publications

References 38 publications

Influência genética sobre a doença de Alzheimer de início tardio

Influência genética sobre a doença de Alzheimer de início tardio

The Genetics of Alzheimer’s Disease in Brazil: 10 Years of Analysis in a Unique Population

The role of cochlear neurotransmitters in tinnitus

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