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Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease

CASTILHOS, Raphael Machado ; AUGUSTIN, Marina Coutinho ; SANTOS, José Augusto dos ; PEDROSO, José Luiz ; BARSOTTINI, Orlando ; SABA, Roberta ; FERRAZ, Henrique Ballalai ; VARGAS, Fernando Regla ; FURTADO, Gabriel Vasata ; Polese-BONATTO, Marcia ; RODRIGUES, Luiza Paulsen ; SENA, Lucas Schenatto ; VARGAS, Carmen Regla ; SARAIVA-PEREIRA, Maria Luiza ; JARDIM, Laura Bannach ; NEUROGENÉTICA, Rede

Arquivos de neuro-psiquiatria, 2020-02, Vol.78 (2), p.81-87 [Periódico revisado por pares]

Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil: Thieme Revinter Publicações Ltda

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Título:
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
Autor: CASTILHOS, Raphael Machado ; AUGUSTIN, Marina Coutinho ; SANTOS, José Augusto dos ; PEDROSO, José Luiz ; BARSOTTINI, Orlando ; SABA, Roberta ; FERRAZ, Henrique Ballalai ; VARGAS, Fernando Regla ; FURTADO, Gabriel Vasata ; Polese-BONATTO, Marcia ; RODRIGUES, Luiza Paulsen ; SENA, Lucas Schenatto ; VARGAS, Carmen Regla ; SARAIVA-PEREIRA, Maria Luiza ; JARDIM, Laura Bannach ; NEUROGENÉTICA, Rede
Assuntos: Amino acids ; Amino Acids, Branched-Chain ; Biomarkers ; Body mass index ; Carnitine ; Clinical trials ; Huntington Disease ; Huntington's disease ; Huntingtons disease ; Isoleucine ; Leucine ; Metabolites ; NEUROSCIENCES ; Polyglutamine ; PSYCHIATRY ; Trinucleotide repeat diseases ; Trinucleotide repeats ; Valine ; Weight Loss
É parte de: Arquivos de neuro-psiquiatria, 2020-02, Vol.78 (2), p.81-87
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT , has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.
Editor: Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil: Thieme Revinter Publicações Ltda
Idioma: Inglês;Português

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Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease

Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil: Thieme Revinter Publicações Ltda

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