Another disease caused by a mutation in a single gene is Huntington’s disease (HD), an autosomal...

Another disease caused by a mutation in a single gene is Huntington’s disease (HD), an autosomal dominant condition. It is caused by mutations in a gene required for normal nerve cell function. The mutations cause abnormal proteins to be produced which “stick” together and accumulate in nerve cells, eventually interfering with normal cell operations. Suggest two ways you could treat the disease by targeting the translation step for the HD protein and justify why each approach might be effective.

Expert Solution

We can approach with the steps which can inhibit the production of abnormal protein. There are two approved method which shows some effective results.

Method 1

AMT-130 is an experimental gene therapy that works by inhibiting the production of the mutated forms of the huntingtin (mHTT) protein, the underlying cause of Huntington’s disease.

The therapy is composed of a small portion of synthetic genetic material called microRNA, that, once inside the cell, binds to and destroys the molecule carrying the genetic information for the production of the huntingtin protein. As a result, AMT-130 decreases production of the abnormal mHTT protein.

Method 2

We can use induced pluripotent stem cells (iPSC) of Huntington’s patients to generate neurons. Of note, IPSCs are derived from either skin or blood cells that have been reprogrammed back into a stem cell-like state, which allows for the development of an unlimited source of almost any type of human cell.

AMT-130 treated iPSC-derived neurons released EVs filled with microRNA targeting huntingtin (miHTT) in a dose-dependent manner. The therapy also lowered the levels of mHTT.

Notably, microRNAs are tiny RNA molecules that control the expression of several genes; gene expression is the process by which information in a gene is synthesized to create a working product, such as a protein.

The therapy has shown promising results in preclinical studies and has been granted orphan drug status and fast track designation by the U.S. Food and Drug Administration (FDA).

gladiator answered 1 year ago

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