|  |  |  | | | | Leukaemia Research’s response to DNA sequencing of acute myeloid leukaemia | | | | |
| |
Release Date: 07 November 2008
In a report in Nature*, US scientists describe how they have applied new technology to finding mutations in leukaemia cells. They sequenced the complete genome of leukaemia cells and healthy cells from the same woman.
This allowed the researchers to distinguish between acquired mutations in the leukaemia cells and inherited mutations (which would also be present in the healthy skin cells.) They found eight novel mutations genes which appear key to the development of AML. One of these mutations was in a gene which affects the ability of drugs to enter cells and may have explained why this patient's disease did not respond well to chemotherapy.
The researchers used a new technology called ‘rapid genome sequencing’, which made it possible to compare the complete DNA sequence of healthy and leukaemia cells. Samples were taken from the woman before chemotherapy started as the changes in DNA caused by treatment would have distorted results.
Researchers looked at cells in 187 other AML patients but found that none had the same eight mutations. This suggests that there is tremendous genetic diversity in the development of AML. Researchers believe that the mutations occurred one after the other each pushing the cell closer to malignancy.
The application of this technique is a break though as it enables scientists to detect previously unknown mutations which may drive the development of AML. The test will be easy to replicate in labs across the world and is expected to forward the understanding the precise nature of AML.
Notes:
AML stands for acute myeloid leukaemia, which affects about 2 000 people a year in the UK.
The patient in this study was a woman in her mid-fifties, who sadly died two years after being diagnosed.
The human genome is thought to contain about 30,000 genes.
Reference List
*Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008; 456(6):66-72.
|
|
|
|
|
