Neurology Unit, Azienda Sanitaria Locale della Provincia di Bari, Di Venere Teaching Hospital, Via Ospedale Di Venere 1, 70131, Bari, Italy.
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22.
Riboflavin is classified as one of the water-soluble B vitamins. It is part of the functional group of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) cofactors and is required for numerous flavoprotein-catalysed reactions. Riboflavin has important antioxidant properties, essential for correct cell functioning. It is required for the conversion of oxidised glutathione to the reduced form and for the mitochondrial respiratory chain as complexes I and II contain flavoprotein reductases and electron transferring flavoproteins. Riboflavin deficiency has been demonstrated to impair the oxidative state of the body, especially in relation to lipid peroxidation status, in both animal and human studies. In the nervous system, riboflavin is essential for the synthesis of myelin and its deficiency can determine the disruption of myelin lamellae. The inherited condition of restricted riboflavin absorption and utilisation, reported in about 10-15% of world population, warrants further investigation in relation to its association with the main neurodegenerative diseases. Several successful trials testing riboflavin for migraine prevention were performed, and this drug is currently classified as a Level B medication for migraine according to the American Academy of Neurology evidence-based rating, with evidence supporting its efficacy. Brown-Vialetto-Van Laere syndrome and Fazio-Londe diseases are now renamed as "riboflavin transporter deficiency" because these are autosomal recessive diseases caused by mutations of SLC52A2 and SLC52A3 genes that encode riboflavin transporters. High doses of riboflavin represent the mainstay of the therapy of these diseases and high doses of riboflavin should be rapidly started as soon as the diagnosis is suspected and continued lifelong. Remarkably, some mitochondrial diseases respond to supplementation with riboflavin. These include multiple acyl-CoA-dehydrogenase deficiency (which is caused by ETFDH gene mutations in the majority of the cases, or mutations in the ETFA and ETFB genes in a minority), mutations of ACAD9 gene, mutations of AIFM1 gene, mutations of the NDUFV1 and NDUFV2 genes. Therapeutic riboflavin administration has been tried in other neurological diseases, including stroke, multiple sclerosis, Friedreich's ataxia and Parkinson's disease. Unfortunately, the design of these clinical trials was not uniform, not allowing to accurately assess the real effects of this molecule on the disease course. In this review we analyse the properties of riboflavin and its possible effects on the pathogenesis of different neurological diseases, and we will review the current indications of this vitamin as a therapeutic intervention in neurology.
核黄素属于水溶性 B 族维生素之一。它是黄素单核苷酸 (FMN) 和黄素腺嘌呤二核苷酸 (FAD) 辅因子的功能基团的一部分,是许多黄素蛋白催化反应所必需的。核黄素具有重要的抗氧化特性,对细胞的正常功能至关重要。它是将氧化型谷胱甘肽还原为还原型所必需的,并且对于线粒体呼吸链也是必需的,因为复合物 I 和 II 含有黄素蛋白还原酶和电子转移黄素蛋白。动物和人类研究表明,核黄素缺乏会损害身体的氧化状态,特别是与脂质过氧化状态有关。在神经系统中,核黄素是髓鞘合成所必需的,其缺乏会导致髓鞘层板的破坏。据报道,约 10-15%的世界人口存在有限的核黄素吸收和利用的遗传性疾病,这需要进一步研究其与主要神经退行性疾病的关联。已经进行了几项成功的预防偏头痛的核黄素试验,根据美国神经病学学会循证评级,这种药物目前被归类为偏头痛的 B 级药物,有证据支持其疗效。Brown-Vialetto-Van Laere 综合征和 Fazio-Londe 病现在更名为“核黄素转运蛋白缺乏症”,因为这些是由 SLC52A2 和 SLC52A3 基因突变引起的常染色体隐性疾病,这些基因编码核黄素转运蛋白。高剂量核黄素是这些疾病治疗的主要方法,一旦怀疑诊断,应尽快开始并终身持续使用高剂量核黄素。值得注意的是,一些线粒体疾病对核黄素补充有反应。这些疾病包括多种酰基辅酶 A 脱氢酶缺乏症(大多数情况下是由 ETFDH 基因突变引起的,少数情况下是由 ETFA 和 ETFB 基因突变引起的)、ACAD9 基因突变、AIFM1 基因突变、NDUFV1 和 NDUFV2 基因突变。已经尝试在其他神经疾病中进行治疗性核黄素给药,包括中风、多发性硬化症、弗里德里希共济失调和帕金森病。不幸的是,这些临床试验的设计并不统一,无法准确评估这种分子对疾病过程的实际影响。在这篇综述中,我们分析了核黄素的特性及其对不同神经疾病发病机制的可能影响,并将回顾这种维生素作为神经科治疗干预的现有适应症。