Renieri A, Giordano N, Geraci S, Gennari C
Dipartimento di Biologia Molecolare, Università degli Studi, Siena.
Ann Ist Super Sanita. 2000;36(1):89-98.
The authors describe the molecular mechanisms determining some skeletal diseases, in particular those due to a well-defined, single genic defect. In fact, they examine the hereditary disorders due to mutations in the genes encoding the different collagen types and the hereditary diseases secondary to the defects in: a) the structural proteins of cartilage; b) the enzymes and the sulfate transporters of proteoglycans; c) the transcription factors; d) the growth factors. At the end, the authors emphasize the importance of the genetic studies on animal models, for understanding the etiopathogenesis of many human hereditary disorders.
作者描述了决定某些骨骼疾病的分子机制，特别是那些由明确的单基因缺陷引起的疾病。事实上，他们研究了由于编码不同类型胶原蛋白的基因突变导致的遗传性疾病，以及继发于以下缺陷的遗传性疾病：a）软骨的结构蛋白；b）蛋白聚糖的酶和硫酸盐转运体；c）转录因子；d）生长因子。最后，作者强调了在动物模型上进行遗传学研究对于理解许多人类遗传性疾病的病因发病机制的重要性。
