Department of Cell Biology, Radiation and Stress Cell Biology, University Medical Center Groningen, University of Groningen, 9713 AV Groningen, The Netherlands.
Proc Natl Acad Sci U S A. 2010 Apr 13;107(15):6988-93. doi: 10.1073/pnas.0912105107. Epub 2010 Mar 29.
Pantothenate kinase-associated neurodegeneration (PKAN), a progressive neurodegenerative disorder, is associated with impairment of pantothenate kinase function. Pantothenate kinase is the first enzyme required for de novo synthesis of CoA, an essential metabolic cofactor. The pathophysiology of PKAN is not understood, and there is no cure to halt or reverse the symptoms of this devastating disease. Recently, we and others presented a PKAN Drosophila model, and we demonstrated that impaired function of pantothenate kinase induces a neurodegenerative phenotype and a reduced lifespan. We have explored this Drosophila model further and have demonstrated that impairment of pantothenate kinase is associated with decreased levels of CoA, mitochondrial dysfunction, and increased protein oxidation. Furthermore, we searched for compounds that can rescue pertinent phenotypes of the Drosophila PKAN model and identified pantethine. Pantethine feeding restores CoA levels, improves mitochondrial function, rescues brain degeneration, enhances locomotor abilities, and increases lifespan. We show evidence for the presence of a de novo CoA biosynthesis pathway in which pantethine is used as a precursor compound. Importantly, this pathway is effective in the presence of disrupted pantothenate kinase function. Our data suggest that pantethine may serve as a starting point to develop a possible treatment for PKAN.
泛酸激酶相关神经退行性变(PKAN)是一种进行性神经退行性疾病,与泛酸激酶功能障碍有关。泛酸激酶是从头合成辅酶 A 的第一个必需酶,辅酶 A 是一种必需的代谢辅因子。PKAN 的病理生理学尚不清楚,也没有治愈方法可以阻止或逆转这种毁灭性疾病的症状。最近,我们和其他人提出了一个 PKAN 果蝇模型,我们证明了泛酸激酶功能障碍会诱导神经退行性表型和寿命缩短。我们进一步探索了这个果蝇模型,并证明了泛酸激酶的功能障碍与辅酶 A 水平降低、线粒体功能障碍和蛋白质氧化增加有关。此外,我们还寻找了可以挽救果蝇 PKAN 模型相关表型的化合物,并鉴定出泛硫乙胺。泛硫乙胺喂养可以恢复辅酶 A 水平,改善线粒体功能,挽救大脑退化,提高运动能力,延长寿命。我们提供了证据表明存在从头合成辅酶 A 的生物合成途径,其中泛硫乙胺可用作前体化合物。重要的是,在泛酸激酶功能障碍的情况下,这条途径仍然有效。我们的数据表明,泛硫乙胺可能成为开发 PKAN 潜在治疗方法的起点。