Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences) - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Department of Physiology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Clin Chim Acta. 2017 Oct;473:82-88. doi: 10.1016/j.cca.2017.08.005. Epub 2017 Aug 8.
We describe body composition, lipid metabolism and Stearoyl-CoA desaturase-1 (SCD-1) indices in patients with classical homocystinuria (HCU).
Eleven treated HCU patients and 16 healthy controls were included. Body composition and bone mineral density were assessed by dual X-ray absorptiometry. Sulfur amino acids (SAA) and their derivatives (total homocysteine, cysteine, methionine, S-adenosylmethionine, S-adenosylhomocysteine, and glutathione), lipids (free fatty acids, acylcarnitines, triglycerides and lipoproteins), glucose, insulin, leptin, adiponectin, and isoprostanes were measured in plasma. Insulin resistance was evaluated by HOMA-IR. To estimate liver SCD-1 activity, SCD-16 [16:1(n-7)/16:0] and SCD-18 [18:1(n-9)/18:0] desaturation indices were determined.
In HCU patients, SCD-16 index was significantly reduced (p=0.03). A trend of an association of SCD-16 index with cysteine was observed (r=0.624, p=0.054). HCU patients displayed lower lean mass (p<0.05), with no differences in fat mass percentage. Leptin and low-density lipoprotein concentrations were lower in HCU patients (p<0.05). Femur bone mineral density Z-scores were correlated with plasma cysteine (r=0.829; p=0.04) and total homocysteine (r=-0.829; p=0.04) in HCU patients.
We report alterations in leptin and SCD-1 in HCU patients. These results agree with previous findings from epidemiologic and animal studies, and support a role for SAA on lipid homeostasis.
我们描述了经典同型胱氨酸尿症（HCU）患者的身体成分、脂代谢和硬脂酰辅酶 A 去饱和酶-1（SCD-1）指数。
纳入 11 名接受治疗的 HCU 患者和 16 名健康对照者。采用双能 X 线吸收仪评估身体成分和骨矿物质密度。检测血浆中的硫氨基酸（SAA）及其衍生物（总同型半胱氨酸、半胱氨酸、蛋氨酸、S-腺苷甲硫氨酸、S-腺苷同型半胱氨酸和谷胱甘肽）、脂质（游离脂肪酸、酰基肉碱、甘油三酯和脂蛋白）、葡萄糖、胰岛素、瘦素、脂联素和异前列烷。用 HOMA-IR 评估胰岛素抵抗。为了估计肝脏 SCD-1 活性，测定了 SCD-16 [16:1(n-7)/16:0]和 SCD-18 [18:1(n-9)/18:0]的去饱和指数。
在 HCU 患者中，SCD-16 指数显著降低（p=0.03）。观察到 SCD-16 指数与半胱氨酸呈关联趋势（r=0.624，p=0.054）。HCU 患者的瘦体重较低（p<0.05），但脂肪质量百分比无差异。HCU 患者的瘦素和低密度脂蛋白浓度较低（p<0.05）。HCU 患者的股骨骨矿物质密度 Z 评分与血浆半胱氨酸（r=0.829；p=0.04）和总同型半胱氨酸（r=-0.829；p=0.04）呈正相关。
我们报告了 HCU 患者中瘦素和 SCD-1 的变化。这些结果与以前的流行病学和动物研究结果一致，支持 SAA 在脂质动态平衡中的作用。
