New Gene Therapy May Aid in Treatment of Down Syndrome And Edward Syndrome

Good news from Elixirgen, LLC for people with Down syndrome. One of the best potential therapies for people with Down Syndrome and other chromosome disorders has been outlined by the biotechnology company, located at John Hopkins, in a paper titled “Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures”. The paper is published in the journal DNA Research. Also Elixirgen plans to develop this technology into a treatment for the many complications that affect people with Down syndrome and other chromosome disorders at all age levels.

Use of the gene ZSCAN4 as means to cure chromosome abnormalities has been given in the paper. For this, the researchers developed footprint-free ways to deliver the ZSCAN4 gene into the cell, the gene is expressed in transient manner. Then they found that such ‘hit-and-run’ application of the genes significantly increased the proportion of cells with a normal number of chromosomes (known as euploidy) in a population of embryonic stem cells with mostly abnormal numbers of chromosomes (known as aneuploidy).

In the end the researchers used the human version of the same gene on cells from people with Down syndrome and Edwards syndrome and found a significant increase in the number of euploid cells. Since Down syndrome and Edwards syndrome are characterized by 3 copies of a chromosome (21 and 18 respectively), the euploid cells no longer have the characteristics of either of those syndromes. Interestingly, ZSCAN4 is found ordinarily in the 2-cell stage of mammalian embryos and occasionally in stem cells, making the gene a natural chromosome therapy.

A range of complications such as congenital heart defects, blood disorders and cognitive impairment are often experienced by people with Down syndrome. In the case of mosaic Down syndrome, these complications can be less severe as this form of Down syndrome is characterized with a mixture of euploid and aneuploid cells instead of just aneuploid cells. "Our goal is to alleviate the complications in people with Down syndrome by using ZSCAN4 therapy to increase their numbers of euploid cells," says Dr. Minoru Ko, Elixirgen's Chief Scientific Officer.

The focus of the company is currently on bringing the Down syndrome therapy into the clinic. There are many other chromosome disorders that are without treatment and discovery of aneuploidy correction may offer a lead to more cures in the future.

Source-Medindia