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

• Autor(a) principal: CASTILHOS,Raphael Machado
• Data de Publicação: 2020
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000200081
• topic: Biomarkers; Amino Acids, Branched-Chain; Carnitine; Huntington Disease; Weight Loss

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.