BMC Med Genomics. 2012; 5: 15.Published online 2012 May 4. doi: 10.1186/1755-8794-5-15
PMCID: PMC3375203
The introduction to this paper starts with the normal spiel about the things associated with this disease and I didn't really learn anything new there. There was also the usual talk about it coming back and this again is of unknown cause but likely because of genetics or sufficient disease tissue being left behind to cause regrowth.
In this paper they are looking at cells from Dupuytren's and carpel tunnel patients as well as normal uninvolved tissue to use as a comparison. For those with limited understanding of science or those that fancy a refresh have a quick look at this post -- Analysis of Duputren's cells -- I will try and explain the science here but reading the previous post will probably help.
In this paper they are using a technique that is called a micro-array this allows them compare the levels of thousands of different read outs from the different types of cells are compare them. This means that if they have 4 different cells lines (i.e. 4 different groups of cells derived from different patients) they can build up a profile of what the cells from patients with this condition look like and see how they are the same and how they are different from 'normal' cells. This is a big deal for something like Dupuytren's where of course they do not know what the cause is, they have some idea of the pathways involved
The advantage of a micro-array is that it allows you to look at allow the changes that are happening in all the pathways in the cells that have come directly from patients.
The Results:
I will stick to looking at what they found for the Dupuytren's tissue rather than bog down the post with the carpel tunnel stuff, When comparing DC and normal cells they found out that there were 308 transcripts that were different between the two cell types, they also show lots of other data saying that there is some difference between the two different sets of cells.
They next go on to look at identification of biological pathways that are altered among these different cell types. When looking at the pathways altered in the different cell types for Dupuytren's and normal cells were related to cell death, cell growth and proliferation (speed and control of growth) which of course makes sense when you see less cell death and too much cell growth and division in Dupuytren's cells. The analysis also suggested that there was some involvement of the regulation of things called microRNAs. These results were then validated using another technique which showed that the results were reliable.
They conclude by saying that the progression and recurrence of DC could be based upon similar theories to those applied to tumour biology (in no way are they suggesting it is cancerous). They say that perhaps there is an inherited mutation but that it takes a second mutation to cause the disease to become active, this kind of fits with the fact that the disease appears to be dominant but with a variable hit rate as the dominant factor is the initial mutation but the variable bit is acquiring the second one. Again this also fits with the disease normally happening later in life as this would give time for the additional mutation to occur.
They have a lot more information in that paper which is why I have linked to it above. Hopefully research continues into these conditions so that a better and more successful treatment / cure can be found.
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