Polycystic kidney disease: Identifying a pathogenic pathway

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Published: 11 Feb 2016
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Dr Giovanna Musco - San Raffaele Scientific Institute, Milan, Italy

Dr Musco talks to ecancertv about how using a metabolomic approach, they identified a pathogenic pathway that can be safely targeted for therapy in polycystic kidney disease.


Polycystic kidney disease: Identifying a pathogenic pathway

Dr Giovanna Musco - San Raffaele Scientific Institute, Milan, Italy

What is the potential of metabolomics in your research area?

It’s a good potential, especially in basic research. It helps to give potential ideas for mechanisms and gives the first hints for going for research of the specific mechanisms which are present in pathological situations. So it can give a big overview of the situation and then with the popping up of specific metabolites, markers, it can give the researcher the idea where to look for a specific pathway which is metabolically not functioning properly. So it gives first hints, I would say.

Are you also involved in NMR metabolomics?

In metabolomics there are mainly two big techniques which are used, one is mass spectrometry and the other one is NMR. I would use both techniques when metabolomics projects start because they are giving complementary information. So the good thing is that with NMR you can use your sample almost directly, for example plasma of patients, urine of patients, without any prior treatment so you are not biased by the preparation of the sample. So in one shot you acquire one experiment and simultaneously you get all the metabolites. The big limit of the technique with the mass spectrometry is it’s not so very sensitive so we can only detect those molecules which are present in high concentrations. But the good thing is that with one experiment you get all of them and you are quite unbiased in looking for them. So it’s good in this sense.

What are you specifically working on?

I have different projects, mainly two related to diseases, different diseases. One is polycystic kidney disease which is a genetic disease involving kidneys which become bigger and bigger with cysts and then in the end you have to go to transplantation. The other is on leukaemia, AML. On the first project we are working on mouse models of polycystic kidney disease and we were looking, as I said before, for the mechanism causing the disease. A colleague of mine who is an expert on this came to me and said, ‘Look, we want to study what is going on metabolically on the kidneys of mice,’ so we started to look at the extracts of these mice and looking which were the metabolites which were mainly different in diseased mice and in wildtype mice. In AML it’s a starting project in which we are collecting samples of people affected by AML which are followed over time during chemotherapy. We are trying to understand whether we are able to detect, starting from the metabolites, and differentiate those which are responding to the treatment from those who will not respond and so to avoid useless treatment also. So this is my area at present.

Do you think metabolomics will increase in pre-clinical research?

For sure in pre-clinical research yes, it’s a good complementary technique to the other omics because it is at the end of all the steps of the omics – genomics, transcriptomics, proteomics and then it is the end step of all these techniques. So I think it will be of great help, I think so.

Do you think it will have a future role in the clinic?

Yes, in the future it can have a role. I think we are a little bit… It will arrive in the future because of course it’s easier to work on cells or on mice and to work directly on human beings, of course they are more valuable, so statistics is quite important. But in the future it could have a role also in diagnostics for detecting disease starting from metabolites.