关键词: biotin biotin-(strept)avidin assays biotin-treated human disorders biotinidase deficiency biotin–thiamine-responsive basal ganglia disease (BTBGD) holocarboxylase synthetase deficiency (HLCS deficiency) sodium-dependent multivitamin transporter (SMVT)

Mesh : Humans Biotin / metabolism Homeostasis Biotinidase Deficiency / metabolism diagnosis genetics drug therapy Biotinidase / metabolism genetics Holocarboxylase Synthetase Deficiency / metabolism Carbon-Nitrogen Ligases / metabolism genetics Animals Ataxia / metabolism genetics Basal Ganglia Diseases

来  源:   DOI:10.3390/ijms25126578   PDF(Pubmed)

Abstract:
Biotin (vitamin B7, or vitamin H) is a water-soluble B-vitamin that functions as a cofactor for carboxylases, i.e., enzymes involved in the cellular metabolism of fatty acids and amino acids and in gluconeogenesis; moreover, as reported, biotin may be involved in gene regulation. Biotin is not synthesized by human cells, but it is found in food and is also produced by intestinal bacteria. Biotin status/homeostasis in human individuals depends on several factors, including efficiency/deficiency of the enzymes involved in biotin recycling within the human organism (biotinidase, holocarboxylase synthetase), and/or effectiveness of intestinal uptake, which is mainly accomplished through the sodium-dependent multivitamin transporter. In the last years, administration of biotin at high/\"pharmacological\" doses has been proposed to treat specific defects/deficiencies and human disorders, exhibiting mainly neurological and/or dermatological symptoms and including biotinidase deficiency, holocarboxylase synthetase deficiency, and biotin-thiamine-responsive basal ganglia disease. On the other hand, according to warnings of the Food and Drug Administration, USA, high biotin levels can affect clinical biotin-(strept)avidin assays and thus lead to false results during quantification of critical biomarkers. In this review article, recent findings/advancements that may offer new insight in the abovementioned research fields concerning biotin will be presented and briefly discussed.
摘要:
生物素(维生素B7或维生素H)是一种水溶性B族维生素,可作为羧化酶的辅因子,即,参与脂肪酸和氨基酸的细胞代谢和糖异生的酶;此外,据报道,生物素可能参与基因调控。生物素不是由人类细胞合成的,但它存在于食物中,也是由肠道细菌产生的。人类个体的生物素状态/稳态取决于几个因素,包括在人体生物体内参与生物素回收的酶的效率/缺乏(生物素酶,全羧化酶合成酶),和/或肠道吸收的有效性,这主要是通过钠依赖性多种维生素转运体完成的。在过去的几年里,高/“药理学”剂量的生物素已被提议用于治疗特定的缺陷/缺陷和人类疾病,主要表现出神经和/或皮肤症状,包括生物素酶缺乏症,全羧化酶合成酶缺乏症,和生物素-硫胺素反应性基底节疾病。另一方面,根据食品和药物管理局的警告,美国,高生物素水平可影响临床生物素-(链霉)抗生物素蛋白测定,并因此在关键生物标志物的定量期间导致错误结果。在这篇评论文章中,将介绍并简要讨论可能为上述有关生物素的研究领域提供新见解的最新发现/进展。
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