Wednesday, 30 May 2012

Mutation causing Dupuytren's? Or not?

Evaluation of a Mitochondrial DNA mutation in Maternally Inherited and Sporadic Cases of Dupuytren’s Disease: Anderson et al, CM&R, 2012

It has been a long time since I did any kind of science type post but I thought that there is no harm in one every so often and this is mainly inheritance. So…

In this paper they are looking into a previously reported mutation that has been linked to Dupuytren’s disease. The previous paper identified a mutation and reported that this specific mutation was present in 90% of their subjects who has maternally inherited Dupuytren’s disease but not in any of their controls. 

I am not going to go into the details of the mutation but please ask if you would like a more detailed explanation but what I will say is that this mutation was in the mitochondria. Of course most people don’t know what this is but basically it is the thing inside the cell that makes energy and it has been shown to accumulate mutations with aging (Dupuytren’s increases with age) and mitochondria are only passed from the mother to child meaning that it is only important in cases of maternal inheritance. There are several reasons why this might be interesting which I have tried to explain in the picture below for anyone who is interested. 

I think most of the above is self explanatory but I wil


Basically in their pool of patients they see nobody with the previously identified mutation but then they only have 2 cases where there is a maternal inheritance but the other explanation is that their patients are all German whereas the previously study was English so perhaps the difference could be that this mutation is present in the English population but not the German one. 

Clearly this paper is not ground breaking however it is good to see that there are still studies on-going into the genetic basis of Dupuytren’s and hopefully they manage to find something. I don’t think that there is a single source as I think that there are too many different pathways involved and it is far too common to be a single mutation. The above mutation may well be one of the causes in the UK and it could help explain why it increases with age but the work needs to continue. 

Key points: 
  • Previous study saw 90% of maternal DD has specific mutation (study in UK). 
  • This study did not see this same mutation but it was from a different region and only had 2 patient with maternally inherited cases of Dupuytren's.
  • With me being a man one day looking to start a family I hope that this is also a mutation linked to Ledderhose and it is the one so that I cannot pass it on to any children.