Arquivos de neuro-psiquiatria · 2020
Free carnitine and branched chain amino acids are not good biomarkers in Huntington's disease.
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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
Аннотация
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.
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.