Inukai T, Tayama K, Inukai Y, Matsutoma R, Takebayashi K, Aso Y, Takemura Y
Department of Internal Medicine, Koshigaya Hospital, Dokkyo University School of Medicine, Minami-Koshigaya 2-1-50, Koshigaya, 343-8555 Japan.
Exp Clin Endocrinol Diabetes. 2001;109(7):386-8. doi: 10.1055/s-2001-17412.
The human beta(3)-adrenergic receptor (beta(3)AR) is expressed specifically in adipose tissues, and its activation is activated in brown adipose tissues during thermogenesis and in white adipose tissues during lipolysis. We investigated the relationship between a polymorphism of the beta(3)AR gene and the clinical features of type 2 diabetes mellitus. Studies were conducted in 30 type 2 diabetic patients (15 males and 15 females). Analysis of polymorphisms of the beta(3)AR gene was performed by a pin-point sequencing method using the hair of the subjects. Preperitoneal (P-fat) and subcutaneous fat (S-fat) levels were determined by ultrasonography. We found a Trp(64)Arg allele of the beta(3)AR gene in the hair of 27% of all patients. The patients with this mutation showed a significantly younger onset-age of diabetes than those of the wild type. The body mass index, serum GPT levels, fasting immunoreactive insulin (IRI) and daily urinary C-peptide reaction (CPR) in the mutation group were markedly higher than in the wild type group. The P-fat, serum cholesterol and leptin concentrations tended to be higher in the mutation group. Patients in the mutation group had a significantly higher prevalence of hypertension (80%) compared with those in the wild type group (20%).
The present results suggest that the clinical features of diabetic patients with a missense mutation in the beta(3)AR gene are substantially distinct from those of the wild type patients. These specific features include obesity, hyperinsulinemia, hypertension, and an increase in preperitoneal fat.
人β（3）-肾上腺素能受体（β3AR）特异性表达于脂肪组织，在产热过程中棕色脂肪组织以及脂肪分解过程中的白色脂肪组织中其活性被激活。我们研究了β3AR基因多态性与2型糖尿病临床特征之间的关系。对30例2型糖尿病患者（15例男性和15例女性）进行了研究。采用针对受试者毛发的定点测序方法对β3AR基因多态性进行分析。通过超声检查测定腹膜前（P-脂肪）和皮下脂肪（S-脂肪）水平。我们在所有患者的毛发中发现27%存在β3AR基因的色氨酸（64）精氨酸等位基因。具有这种突变的患者糖尿病发病年龄显著低于野生型患者。突变组的体重指数、血清谷丙转氨酶水平、空腹免疫反应性胰岛素（IRI）和每日尿C肽反应（CPR）明显高于野生型组。突变组的P-脂肪、血清胆固醇和瘦素浓度往往更高。与野生型组（20%）相比，突变组患者高血压患病率显著更高（80%）。
目前的结果表明，β3AR基因错义突变的糖尿病患者的临床特征与野生型患者有很大不同。这些特定特征包括肥胖、高胰岛素血症、高血压和腹膜前脂肪增加。
