학술논문
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
Document Type
article
Author
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
Source
Arquivos de Neuro-Psiquiatria. February 2020 78(2)
Subject
Language
English
ISSN
0004-282X
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.