芬兰赫尔辛基大学Anu Suomalainen和Eija Pirinen合作取得新进展。他们发现烟酸可治疗成人线粒体肌病系统性NAD缺乏及改善肌肉功能。该研究于2020年5月7日发表于《细胞-代谢》。

他们报道了成年线粒体肌病患者的全身NAD +缺乏症。他们分别给患者及其匹配的对照者增加了10个月或4个月剂量的NAD +增强烟酸（一种维生素B3形式）（至750–1,000 mg /天；clinicaltrials.gov NCT03973203）。在所有受试者中，血液NAD +均增加大到8倍，并且患者的肌肉NAD +达到了对照水平。

一些患者表现出贫血趋势，而所有受试者的肌肉力量和线粒体生物合成均增加。在患者中，肌肉代谢组向对照组转移，肝脂肪减少甚至达到50％。他们的证据表明，血液分析可用于鉴定NAD +缺乏症，并指出烟酸是治疗线粒体肌病的有效NAD +增强剂。

研究人员表示，NAD +是一种具有氧化还原活性的代谢产物，已提出将其消耗掉以促进啮齿动物的衰老和退行性疾病。然而，退行性疾病患者是否会发生NAD +耗竭以及NAD +耗竭是否能改善其症状仍未确定。

附：英文原文

Title: Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy

Author: Eija Pirinen, Mari Auranen, Nahid A. Khan, Virginia Brilhante, Niina Urho, Alberto Pessia, Antti Hakkarainen, Juho Kuula, Ulla Heinonen, Mark S. Schmidt, Kimmo Haimilahti, Pivi Piiril, Nina Lundbom, Marja-Riitta Taskinen, Charles Brenner, Vidya Velagapudi, Kirsi H. Pietilinen, Anu Suomalainen

Issue&Volume: 2020-05-07

Abstract: NAD+ is a redox-active metabolite, the depletion of which has been proposed to promoteaging and degenerative diseases in rodents. However, whether NAD+ depletion occurs in patients with degenerative disorders and whether NAD+ repletion improves their symptoms has remained open. Here, we report systemic NAD+ deficiency in adult-onset mitochondrial myopathy patients. We administered an increasingdose of NAD+-booster niacin, a vitamin B3 form (to 750–1,000 mg/day; clinicaltrials.gov NCT03973203) for patients and their matched controls for 10 or 4 months, respectively. BloodNAD+ increased in all subjects, up to 8-fold, and muscle NAD+ of patients reached the level of their controls. Some patients showed anemia tendency,while muscle strength and mitochondrial biogenesis increased in all subjects. In patients,muscle metabolome shifted toward controls and liver fat decreased even 50%. Our evidenceindicates that blood analysis is useful in identifying NAD+ deficiency and points niacin to be an efficient NAD+ booster for treating mitochondrial myopathy.

DOI: 10.1016/j.cmet.2020.04.008

Source: https://www.cell.com/cell-metabolism/fulltext/S1550-4131(20)30190-X