통증을 못느끼는 기전에 대한 공부. Disease mechanisms and potential therapeutic strategies in Charcot–Marie–Tooth disease.

[문형철]

모든 의료인, 환자가 통증은 나쁜 것으로 인식하고 타도의 대상으로만 인식하고 있다.

적당한 통증은 즐겨라.

통증에 감사하라.

통증은 살아있음의 sign이다. 

의료인은 환자에게 통증치료가 아니라 optimal function 회복에 온 마음을 쏟아야 한다.

그 과정에서 적당한 통증은 인식하고 받아들이게 하는 뇌의 인지과정이 필요하다. 

그러한 관점으로 이 논문을 보려한다.

charcot disease mechanism에 관한 review 논문.pdf

Until 10 years ago, the genetic basis of Charcot–Marie–Tooth (CMT) disease was largely unknown. With the finding of an

intrachromosomal duplication on chromosome 17 in 1991, associated with the most commonly found subtype CMT1A, and the discovery of a point mutation in the peripheral myelin protein-22 ( pmp22 ) gene in the Trembler mouse in 1992, the groundwork was laid down for a novel chapter in the elucidation of the molecular basis of this large group of peripheral neuropathies. 

In the meantime, several different genes have been found to be associated with different forms of demyelinating and axonal forms of CMT. 

In this review, we will summarize what is known today about the genetics of this group of disease which constitute the most common known monogenetic disorder affecting the nervous system in man, the animal models that have been generated, and what we have learned about the underlying disease mechanisms. Furthermore, we will review how this gain of knowledge about CMT may open new avenues to the development of novel treatment strategies.