Academic Journal
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
| العنوان: | Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease |
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| المؤلفون: | Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, Rede NEUROGENÉTICA |
| المصدر: | Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020) |
| بيانات النشر: | Academia Brasileira de Neurologia (ABNEURO), 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry |
| مصطلحات موضوعية: | Biomarkers, Amino Acids, Branched-Chain, Carnitine, Huntington Disease, Weight Loss, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1678-4227 0004-282x |
| Relation: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000200081&tlng=en; http://www.scielo.br/pdf/anp/v78n2/1678-4227-anp-78-02-81.pdf; https://doaj.org/toc/1678-4227 |
| DOI: | 10.1590/0004-282x20190152 |
| URL الوصول: | https://doaj.org/article/0a775c15e7a645eb8c1bf15230a492e3 |
| رقم الانضمام: | edsdoj.0a775c15e7a645eb8c1bf15230a492e3 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 16784227 0004282x |
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| DOI: | 10.1590/0004-282x20190152 |