ABSTRACT. Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. The IAs apparently have shown a normal phenotype. However, there are some reported associations between individuals that bear an IA and clinical HD signs, such as behavioral disturbs. The association of IAs with the presence of clinical signs gives clinical relevance to these patients. We emphasized the importance of determining the frequency of IA alleles in the general population as well as in HD families. Therefore, the aim of this study was to conduct a systematic review, in order to investigate the frequency of IAs in the overall chromosomes of different ethnic groups and of families with HD history worldwide as well as the frequency of individuals who bear the intermediate alleles. We searched indexed articles from the following electronic databases: U.S. National Library of Medicine and the National Institutes of Health (PubMed), Pubmed Central (PMC) and Virtual Health Library (VHL). Therefore, 488 articles were obtained and, of these, 33 had been published in more than one database. We accepted the article of only one database and ended up with 455 articles for this review. The frequency of IAs within the chromosomes of the general population ranged from 0.45 to 8.7% and of individuals with family history of HD ranged from 0.05 to 5.1%. The higher frequency of IAs in the general population (8.7%) was found in one Brazilian cohort.
Background/Aims: Our aim was to investigate a geographical cluster of Huntington's disease (HD) in Ervalia, a Brazilian town of Minas Gerais state (MG). Therefore, we calculated the minimum prevalence of HD in Ervalia, known to have many HD affected families. We also determined the genetic profile of the polymorphic CAG region of the HTT gene in 32 subjects of these affected families. Methods: A descriptive cross-sectional study was performed, starting in January 2011 until June 2013. Individuals who participated in the survey were all from Ervalia town, MG. Results: The minimum prevalence rate found was 7.2/10,000 people, higher than the worldwide prevalence. Conclusion: The minimum prevalence of HD in Ervalia was at least 10.3- to 14.4-fold greater than that of the world population, although it does not represent the overall prevalence of the disease in Brazil. Certainly an expanded survey in the country will lead to a lower prevalence estimate than Ervalia's.
A Saúde do Trabalhador caracteriza-se como um campo de práticas e de conhecimentos estratégicos voltados para analisar e intervir nas relações de trabalho que provocam doenças e agravos. A Educação Interprofissional, nesse contexto, propõe que estudantes de graduação em saúde e profissionais inseridos nos serviços aprendam a cooperar de forma colaborativa na resolução de questões atreladas ao trabalho. Este objetiva relatar a vivência das práticas colaborativas desenvolvidas pelos bolsistas do Programa de Educação Interprofissional em Saúde acerca das ações de prevenção, promoção e educação relacionadas à saúde dos trabalhadores incorporados ao Sistema Único de Saúde. Estudo exploratório, descritivo, de abordagem quantitativa sobre o relato de experiência dos bolsistas no projeto Pet/Saúde Interprofissionalidade. A partir das ações de prevenção e promoção à saúde realizadas nas unidades de saúde, o sexo feminino foi o predominante; a formação de nível superior se fez presente na equipe; percebeu-se um alto índice de sobrepeso e obesidade nos trabalhadores que alegaram não receber capacitação frequentemente na unidade de atuação. Percebeu-se satisfação profissional no ambiente de trabalho. Relataram sofrer ocasionalmente e frequentemente dor na nuca, nas costas e na região lombar; o nível de dor relatado foi de desconfortável à totalmente horrível. A prática da reflexologia refletiu em uma diminuição no nível da dor entre os trabalhadores. Pode-se visualizar o trabalho como fator determinante do processo saúde-doença dos indivíduos e da coletividade. O cuidado à Saúde dos Trabalhadores almeja constituir um novo campo de atuação e intervenção da rede pública de serviços de saúde no Brasil.
Background: Huntington disease (HD) (MIM: 143100) is a severe autosomal dominant neurodegenerative disease caused by the expansion of CAG trinucleotides (>35) in the HTT. Objective: To investigate the frequency of intermediate CAG alleles (IAs) in individuals residing in Rio de Janeiro city with no familial history of HD (general population, GP) in comparison with a sample of individuals from families presenting with HD who were previously investigated by our group (affected sample, AS).Results: The frequency of normal CAG alleles was 96.2%, while that of IAs was 3.6%, and that of reduced penetrance alleles was 0.2% in the GP (n = 470 chromosomes); 7.2% (17/235 individuals) of the GP presented an IA in heterozygosis with a normal allele. There was no statistically significant difference between the frequencies of the IAs in the GP and in the AS (p = .9). The most frequent haplotype per normal allele was (CAG)17-(CCG)7 (101/461) and per IA was (CAG)27-(CCG)7 (6/17) in the GP. These haplotypes were also the most frequent in the normal and IA chromosomes of the AS, respectively. Conclusion: The genetic profiles of the IAs obtained from GP and AS were rather similar. It is important to investigate the frequencies of the IAs because expansions arise from a step-by-step mechanism in which, during intergenerational transmission, large normal alleles can generate IAs, which are then responsible for generating de novo HD mutations. The genetic investigation of IAs in the GP was also important because it was focused on the population of Rio de Janeiro, an understudied group.CCG7 was the most frequent CCG allele in linkage disequilibrium with normal, intermediate, and expanded CAG alleles, similar to the Western Europe population.However, a more robust investigation, in conjunction with haplogroup determination (A, B, or C), will be required to elucidate the ancestral origin of the HTT mutations in Brazilians.
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