Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease

Oliveira, Jessica Blanc Leite; Martínez, Alberto; França, Marcondes Cavalcante

doi:10.1080/14656566.2022.2135432

Cited by 4 publications

(1 citation statement)

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“…Machado-Joseph disease (MJD), also called spinocerebellar ataxia Type 3, is an autosomal dominant neurodegenerative disorder where individuals experience progressive clumsiness, lurching gait, impaired eye movement, and dystonia which lacks effective treatments ( Oliveira et al, 2022 ). Onset of MJD occurs around the age of 30 and is attributed to a high number of CAG trinucleotide repeats (particularly more than 60 repeats) within the MJD1 locus (also called ATXN3) ( Paulson, 2012 ).…”

Section: Resultsmentioning

confidence: 99%

More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles

Lockwood,

Vo,

Bellafard

et al. 2024

Front. Genet.

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IntroductionMany loci segregate alleles classified as “genetic diseases” due to their deleterious effects on health. However, some disease alleles have been reported to show beneficial effects under certain conditions or in certain populations. The beneficial effects of these antagonistically pleiotropic alleles may explain their continued prevalence, but the degree to which antagonistic pleiotropy is common or rare is unresolved. We surveyed the medical literature to identify examples of antagonistic pleiotropy to help determine whether antagonistic pleiotropy appears to be rare or common.ResultsWe identified ten examples of loci with polymorphisms for which the presence of antagonistic pleiotropy is well supported by detailed genetic or epidemiological information in humans. One additional locus was identified for which the supporting evidence comes from animal studies. These examples complement over 20 others reported in other reviews.DiscussionThe existence of more than 30 identified antagonistically pleiotropic human disease alleles suggests that this phenomenon may be widespread. This poses important implications for both our understanding of human evolutionary genetics and our approaches to clinical treatment and disease prevention, especially therapies based on genetic modification.

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Section: Resultsmentioning

confidence: 99%