Abstract:

Neurofibromatosis (NF) is an inherited disease of the nervous system, which mainly affects the development and growth of nerve cells. According to clinical manifestations and gene mapping, NF can be classified into type Ⅰ neurofibromatosis (NF1), type Ⅱ neurofibromatosis (NF2), and schwannomatosis (NF3). NF1 accounts for 96% of all cases, 3% for NF2, and less than 1% for NF3. The pathogenic gene of NF1 is located on chromosome 17q11.2, which encodes a tumor suppressor protein and plays a negative regulatory role in Ras/MAPK and PI3K/mTOR signaling pathways. NF2 is due to the loss of function of the NF2 gene on chromosome 22, resulting in the dysfunction of its encoded Merlin protein. In contrast, the molecular mechanism of NF3 pathogenesis is still unclear, which is mainly believed to be related to the mutations of SMARCB1 and LZTR1 genes. However, the mechanism of NF has made breakthroughs in the field of molecular genetics, many studies have found that non-coding RNA also plays a crucial role in the pathogenesis of NF. Studies have shown that non-coding RNA can cause changes in gene mutation level, expression level, and RNA level during RNA processing, thus affecting the occurrence, growth, and progression of tumors. Among them, microRNA (miRNA) is abnormally expressed in a variety of solid tumors, which has more important significance for the formation of solid tumors. This article summarizes the research progress of miRNA in NF in recent years, so as to understand the role of miRNA in the occurrence and development of NF.

Key words:

Neurofibromatosis, miRNA, Epigenetics

摘要：

神经纤维瘤病（neurofibromatosis，NF）是神经系统的遗传性疾病，主要影响神经细胞组织的发育和生长。根据临床表现和基因定位，NF可分为神经纤维瘤病Ⅰ型（NF1）、神经纤维瘤病Ⅱ型（NF2）和神经鞘瘤病（NF3）。NF1占所有病例的96%，NF2占3%，NF3所占不到1%。NF1致病基因位于染色体17q11.2上，该基因编码一种肿瘤抑制蛋白，在Ras/MAPK和PI3K/mTOR信号通路起负性调节作用。NF2是由于22号染色体NF2基因功能缺失，导致其编码的merlin蛋白发生功能障碍。相比之下，NF3致病分子机制仍不清楚，主要认为与肿瘤抑制基因SMARCB1和LZTR1的基因突变有关。然而，尽管NF的机制研究在分子遗传学领域突破不断，但有不少研究发现非编码RNA在NF的发病中也起着至关重要的作用。有研究表明，非编码RNA在RNA加工过程中会引起基因突变水平、表达水平以及RNA水平变化，从而影响肿瘤的发生、生长和进展。其中，微RNA（microRNA，miRNA）在多种实体肿瘤中表达异常，对实体肿瘤的形成具有更为重要的意义。本文对近年来关于miRNA在NF中的研究进展进行总结，以了解miRNA在NF发生发展中的作用。

关键词:

神经纤维瘤病, miRNA, 表观遗传学