约翰霍普金斯大学和Isis医药公司合作开发利用干细胞技术治疗ALS、痴呆症
2013-10-23 16:43:47   来源：生物谷   

干细胞疗法可用于治疗ALS、痴呆症



2013年10月22日讯 /生物谷BIOON/ --最近来自约翰霍普金斯大学的研究人员和Isis医药公司合作开发利用干细胞技术治疗痴呆症和肌萎缩性脊髓侧索硬化症（ALS）。研究人员通过干细胞技术分化出正常的神经细胞以替代ALS患者发生C9ORF72基因突变的细胞。这种突变阻碍了集体正常蛋白质合成的进程。通过导入正常的RNA，研究人员可以令突变的基因重新表达行使正常功能。Isis公司计划用几年时间进一步完善该技术以便将其推向市场。（生物谷Bioon.com）

详细英文报道：

Using stem cell technology, Johns Hopkins researchers and collaborators at Isis Pharmaceuticals ($ISIS) have developed several new compounds that seem to halt the toxic effects that lead to brain destruction in amyotrophic lateral sclerosis (ALS) and dementia in lab studies.

Investigators created neurons from induced pluripotent stem (iPS) cells taken from the skin of people with ALS who have a mutation in the C9ORF72 gene that disrupts a protein-making process in the body associated with normal neuron function. Mutations in the C9ORF72 gene have previously been implicated in ALS, also known as Lou Gehrig's disease, and in frontotemporal dementia, the second most common form of dementia after Alzheimer's disease.

In a normal person, a series of 6 DNA letters (GGGGCC) is repeated up to 30 times in the C9ORF72 gene. But in those with the genetic mutation, the string can be repeated thousands of times.

Normally, RNA-binding proteins help spur the production of RNA. But in the iPS neurons with the C9ORF72 mutation, the RNA made from the repeating GGGGCC strings bunch up and grab hold of the essential RNA-binding proteins, including one known as ADARB2, needed for the proper production of many other cellular RNAs. In lab tests, the C9ORF72 mutation made the cell produce abnormal amounts of many other normal RNAs and made the cells susceptible to stress.

The Johns Hopkins and Isis researchers developed new chemical compounds that act as a coating that fits onto the GGGGCC repeats like Velcro, keeping flyaways of the GGGGCC repeats from snapping up bait and allowing the RNA-binding protein to do its job.

Isis could begin testing the compounds in human ALS patients with the C9ORF72 mutation in the next several years. Scientists are collaborating with the National Institutes of Health to identify a group of patients with the C9ORF72 mutation for future testing.