1. Genes implicated
Like most diseases, leukemia often results from the mutations of many different genes. In fact, it is often times difficult to determine which gene mutations are direct causes of diseases. Below are several possible genes that, when mutated, may cause leukemia.
a. NPM 1 (http://bloodjournal.hematologylibrary.org/content/106/12/3747.long)
b. MiR-15a and MiR-16-1 (http://www.pnas.org/content/102/39/13944.short)
- Some scientists argue that miR-15a and miR-16-1 actually serve to prevent tumor development. The question becomes: how can these tumor-preventing genes relate to the development of cancer? One possible answer involves what has been found in many people affected by chronic lymphocytic leukemia (CLL). miR-15 and miR-16 genes were often found to be deleted in those affected by CLL. Therefore, the absence or shortage of these tumor-preventers can lead to cancer development. (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978331/?tool=pubmed)
- CLL is one type of leukemia, but there are others. Acute myelogenous leukemia (AML) often results from a different kind of mutation, involving the nucleophosmin gene (also known as NPM-1). During the phase of translation (when the codons combine with tRNA anticodons to form the amino acids, and eventually the desired protein), an insertion is made somewhere, resulting in the wrong codon, which results in the wrong amino acid, which gives us a protein that is partially incorrect and mutated. Please visit this site, and read the bullet points under "Clinical Background". http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/NPM1%20Mutations%20in%20Acute%20Myelogenous%20Leukemia.pdf
3. Frequency of population
- About 35% of those affected by adult acute myeloid leukemia (AML) had NPM-1 gene mutations (http://bloodjournal.hematologylibrary.org/content/108/5/1783.full)
- In terms of chronic lymphocytic leukemia, about 68% of those affected by CLL experienced mutations (often deletions) of miR-15 and miR-16 genes.
4. Any information on genetic testing
- Those who analyze the body's cells for disease can often rely on the finding of MRD (minimal residual disease) to diagnose leukemia. Unfortunately, however, a formal genetic test for leukemia is not yet established. (http://www.ncbi.nlm.nih.gov/pubmed/18546889)
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