Moreau A, Akoumé Ndong M-Y, Azeddine B, Franco A, Rompré P H, Roy-Gagnon M-H, Turgeon I, Wang D, Bagnall K M, Poitras B, Labelle H, Rivard C-H, Grimard G, Ouellet J, Parent S, Moldovan F
Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Sainte-Justine University Hospital Research Center, Université de Montreal, Montreal, Québec, Canada.
Orthopade. 2009 Feb;38(2):114-6, 118-21. doi: 10.1007/s00132-008-1362-x.
Spinal deformities, and particularly scoliosis, are the most frequent forms of orthopedic deformities in children and adolescents. About 1-6% of the population has scoliosis. This disorder leads to severe spinal deformities and predominantly affects adolescent girls.Although the multifactorial origin of adolescent idiopathic scoliosis (AIS) is broadly recognized, the genetic causes of AIS are still largely unknown. Our previous studies suggested a generalized dysfunction of melatonin transduction (the hormone that is primarily produced in the brain and epiphysis). In the meantime we have demonstrated that such a defect of signal transduction is caused by chemical alterations, which inactivate the function of the inhibitory G protein-coupled melatonin receptors. This discovery has led to the development of the first blood test to detect children without symptoms who are at risk of developing scoliosis. Since a single function (cellular reaction to melatonin) is determined, the unique advantage of this test is that it can be performed without knowledge of mutations in defective genes that could provoke the onset of AIS.
脊柱畸形，尤其是脊柱侧弯，是儿童和青少年中最常见的骨科畸形形式。约1%-6%的人口患有脊柱侧弯。这种疾病会导致严重的脊柱畸形，且主要影响青春期女孩。尽管青少年特发性脊柱侧弯（AIS）的多因素起源已得到广泛认可，但其遗传原因仍大多未知。我们之前的研究表明褪黑素转导存在普遍功能障碍（褪黑素是主要在大脑和松果体产生的激素）。同时我们已经证明，这种信号转导缺陷是由化学改变引起的，这些化学改变使抑制性G蛋白偶联褪黑素受体的功能失活。这一发现促使开发出了首个血液检测方法，用于检测没有症状但有患脊柱侧弯风险的儿童。由于只测定单一功能（细胞对褪黑素的反应），该检测方法的独特优势在于，无需了解可能引发AIS发病的缺陷基因中的突变情况即可进行检测。
