Free carnitine and branched chain amino acids are not good biomarkers in Huntington's disease / Carnitina livre e aminoácidos de cadeia ramificada não são bons biomarcadores na doença de Huntington
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.
Arq. neuropsiquiatr
; 78(2): 81-87, Feb. 2020. tab, graf
Artículo
en Inglés
| LILACS | ID: biblio-1089002
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.
Biblioteca responsable:
BR1.1
Texto completo
Documentos relacionados