Quaggin Susan E
The Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
J Clin Invest. 2007 Jun;117(6):1480-3. doi: 10.1172/JCI32482.
A new study by Galeano and colleagues in this issue of the JCI reports the first glomerular disease caused by a genetic defect in sialic acid biosynthesis (see the related article beginning on page 1585). Mice that harbor mutations in the Gne/Mnk gene produce lower amounts of sialic acid, suffer from hematuria, proteinuria, and structural defects in the glomerulus and die within days after birth. Remarkably, the lesion can be reversed through dietary addition of N-acetylmannosamine, a sialic acid precursor, raising the intriguing possibility that this approach might have therapeutic benefit in patients with glomerular disease.
加利亚诺及其同事在本期《临床研究杂志》上发表的一项新研究报告了首例由唾液酸生物合成基因缺陷引起的肾小球疾病（见第1585页开始的相关文章）。携带Gne/Mnk基因突变的小鼠产生的唾液酸量较低，患有血尿、蛋白尿和肾小球结构缺陷，并在出生后数天内死亡。值得注意的是，通过在饮食中添加唾液酸前体N-乙酰甘露糖胺可以逆转这种病变，这增加了一种有趣的可能性，即这种方法可能对肾小球疾病患者具有治疗益处。
