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ShortCut: What can the untranslated regions in the messenger RNA cause?

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ShortCut: What can the untranslated regions in the messenger RNA cause?

I wanted to share the quoted paragraphs below from a book I have read recently, see references, as a shortcut article.

Aside from the junk DNA, which got very poor attention from scientists for a long time, there are yet some mysterious parts waiting to become unraveled about genetic mutations. In the messenger RNA, there are regions at the beginning and the end known as untranslated regions, which are coming from the junk DNA, due to the fact that they are retained but never translated into protein. Albeit untranslated regions may have seemed innocuous, they could be detrimental for us. The reason is as follows.

"The researchers in Korea analyzed the DNA sequences of nineteen patients. Thirteen of these came from three different families, and the other six were single cases. Each of the nineteen patients had a change from a C base to a T base in the untranslated region at the start of the protein-coding region of a specific gene (IFITM5). This change was just fourteen bases away from the start of the protein-coding region of the messenger RNA. They did not detect this C to T change in any of the unaffected family members or in 200 unrelated people from the same ethnic background(1)."

"At about the same time, researchers 5,000 miles away in Germany found exactly the same mutation in a young girl with the same type of brittle bone disease, and in another unrelated patient. In both cases, it was a fresh mutation. It was not present in the parents and must have arisen during the production of eggs or sperm. The scientists analyzed the same region of the genome from over 5,000 unaffected people and found no one with this change(2)."

"In the genes of the Korean and German patients with brittle bone disease, there is a point at which the normal DNA sequence in the untranslated region changes from ACG to ATG (which will be AUG in RNA). The consequence is that the ribosomes start the protein chain too early. This results in a strange phenomenon where junk RNA is changed to protein-coding RNA. This adds an extra five amino acids to the start of the normal protein. The protein involved in this type of brittle bone disease is one that has parts inside and outside the cell(3)."

article-image
Figure - 71.1

References

(1) Carey, Nessa. "Lost in Untranslation." JUNK DNA: A Journey Through the Dark Matter of the Genome. London: Icon Books, 2015. 222-223. Print.

(2) Carey, Nessa. "Lost in Untranslation." JUNK DNA: A Journey Through the Dark Matter of the Genome. London: Icon Books, 2015. 223. Print.

(3) Carey, Nessa. "Lost in Untranslation." JUNK DNA: A Journey Through the Dark Matter of the Genome. London: Icon Books, 2015. 224. Print.

Figure - 71.1 http://news.mit.edu/2018/new-materials-improve-delivery-therapeutic-messenger-rna-0716