Title:RNA Interference and Neuromuscular Diseases: A Focus on Hereditary
Transthyretin Amyloidosis
Volume: 24
Issue: 1
关键词:
淀粉样变性、转甲状腺素、神经肌肉疾病、小干扰RNA、转甲状腺素淀粉样变性和眼淀粉样变性。
摘要: Neuromuscular diseases are severe disorders affecting the peripheral nervous system, usually
driving to death in a limited time. Many new drugs, through RNA-interference technology, are revolutionizing
the prognosis and quality of life for these patients. Nevertheless, given the increased life expectancy,
some new issues and phenotypes are expected to be revealed. In the transthyretin-mediated hereditary
amyloidosis (ATTR-v, "v" for "variant"), the RNA interference was demonstrated to effectively reduce
the hepatic synthesis of transthyretin, with a significant increase in disease progression in terms of
polyneuropathy and cardiomyopathy. The increased life expectancy could promote the involvement of
organs where the extra-hepatic transthyretin is deposited, such as the brain and eye, which are probably
not targeted by the available treatments. All these issues are discussed in this editorial.
