An 18 month odyssey

Finally, after 18 months of waiting, re-submitting, waiting, re-submitting, waiting, rejection, formal appeal, re-submitting and again waiting we got a mail from Nature saying:
"Your manuscript entitled "..." has now been seen by our referees, and in the light of their advice I am delighted to say that we can in principle offer to publish it..."

Then re-submitting, waiting and then finally we received the following mail from Nature today: 

Unfortunately, today a lot of people from the IIEG are on holiday or join a conference. This is why we will celebrate this success on Monday (with a bottle of champagne)!

To sum up the paper using not to many words:
We analysed a family with severe clustering of myocardial infarction. Previous linkage studies did not reveal any locus that co-segregated with the disease. So to identify the disease-causing mutation in this family, we decided to sequence the whole exome (coding region of the genome) of three distantly related family members. We looked for rare variants, which in addition were predicted to cause protein changing effects. After additional filters, we were left with four potential disease causing variants that were shared by the three affected family members. In depth literature seach revealed that two of these variants interact on a protein level, both part of an important protein complex. To get a better understanding of the causual effect, we performed several functional studies and were able to show that double mutation carriers actually have reduced levels of the affected protein complex. 

Understanding the underlying disease-causing mechanisms of MI, we can use this to establish new therapeutic targets that revise this effect.

Once the paper is published online we can be more specific about the genes and the mechanism.