Rastogi S C, Clausen J, Melchior J C, Dyggve H V, Jensen G E
Acta Neurol Scand. 1977 Nov;56(5):389-96. doi: 10.1111/j.1600-0404.1977.tb01446.x.
Patients with the DMC syndrome have been suggested to possess a specific sulfatase abnormality and/or to be deficient in a proteinase cleaving glycoprotein-acid mucopolysaccharide (AMP) linkage. We have previously found in DMC patients an abnormal excretion of urinary AMPs of which hyaluronic acid and chondroitin sulfate (A + C) were oversulfated and keratosulfate and heparan sulfate were undersulfated. Lysosomal acid proteinase, i.e. cathepsin D (EC 3.4.23.5) and neutral proteinase : elastase (EC 3.4.21.11) and cathepsin G were found to be normal in DMC patients. However, alpha 2-macroglobulin in serum was raised. This increase may be associated with a complex formation of alpha 2-macroglobulin with a neutral proteinase released from the cells. Increased levels of chondroitin sulfate N-acetylgalactosamine-6-sulfate sulfatase and sulfamidase and decreased enzymic levels of arylsulfatase A and B (EC 3.1.6.1) were found in leucocytes of DMC patients. The sulfatase activities assayed in the present study support our theory that a specific sulfatase abnormality may exist in the DMC syndrome.
有人提出，患有DMC综合征的患者存在特定的硫酸酯酶异常和/或缺乏一种裂解糖蛋白 - 酸性粘多糖（AMP）连接的蛋白酶。我们之前在DMC患者中发现尿中AMP的排泄异常，其中透明质酸和硫酸软骨素（A + C）过度硫酸化，而硫酸角质素和硫酸乙酰肝素硫酸化不足。在DMC患者中发现溶酶体酸性蛋白酶，即组织蛋白酶D（EC 3.4.23.5）和中性蛋白酶：弹性蛋白酶（EC 3.4.21.11）和组织蛋白酶G正常。然而，血清中的α2 - 巨球蛋白升高。这种升高可能与α2 - 巨球蛋白与从细胞中释放的中性蛋白酶形成复合物有关。在DMC患者的白细胞中发现硫酸软骨素N - 乙酰半乳糖胺 - 6 - 硫酸酯酶和硫酸酰胺酶水平升高，而芳基硫酸酯酶A和B（EC 3.1.6.1）的酶水平降低。本研究中测定的硫酸酯酶活性支持我们的理论，即DMC综合征可能存在特定的硫酸酯酶异常。
