Produção Nacional
Revisado por pares
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
2020; Thieme Medical Publishers (Germany); Volume: 78; Issue: 2 Linguagem: Inglês
10.1590/0004-282x20190152
ISSN1678-4227
AutoresRaphael Machado Castilhos, Marina Coutinho Augustin, José Augusto dos Santos, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini, Roberta Arb Saba, Henrique Ballalai Ferraz, Fernando Regla Vargas, Gabriel Vasata Furtado, Márcia Polese-Bonatto, Luiza Paulsen Rodrigues, Lucas Schenatto Sena, Carmen Regla Vargas, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Rede NEUROGENÉTICA,
Tópico(s)Neurological disorders and treatments
ResumoHuntington's disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials.The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD.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.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.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.
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