Kang Jonghoon, Samuels David C
Virginia Bioinformatics Institute, Virginia Polytechnic and State University, Washington Street, MC 0477, Blacksburg, VA 24061, USA.
Mitochondrion. 2008 Mar;8(2):103-8. doi: 10.1016/j.mito.2008.01.001. Epub 2008 Jan 18.
We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate. This evidence comes from enzyme kinetics, homologous yeast protein alignments, gene knockout studies, and clinical samples from Amish Microcephaly patients. This diverse body of evidence consistently points to the conclusion that SLC25A19 is not the true mitochondrial DNC gene. The identification of the correct mitochondrial DNC is important for research on the genetic diseases of mitochondrial DNA maintenance and the toxicity experienced by many HIV patients undergoing antiretroviral therapy involving nucleoside analogs.
我们回顾了相关证据，这些证据表明，先前被鉴定为线粒体脱氧核糖核苷酸载体（DNC）的SLC25A19基因产物的实际功能是转运硫胺素焦磷酸。该证据来自酶动力学、酵母同源蛋白比对、基因敲除研究以及阿米什小头畸形患者的临床样本。这一系列不同类型的证据一致指向一个结论：SLC25A19并非真正的线粒体DNC基因。确定正确的线粒体DNC对于线粒体DNA维持的遗传疾病研究以及许多接受涉及核苷类似物的抗逆转录病毒治疗的HIV患者所经历的毒性研究而言至关重要。
