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Interview
Neil Stokes - 1 January 2017 2.00 h

Returning smiles to kids' faces

Albert Quintana & Elisenda Sanz. Every Monday, English Hour airs the interview series Going Native. This time Neil talks to two scientists researching mitochondrial disease.
- Neil Stokes
How did the Quin­tana lab come about?
ES: We had both gone to Seat­tle to do post-doc de­grees in neu­ro­bi­ol­ogy and were in neigh­bour­ing labs, which al­lowed us to col­lab­o­rate on var­i­ous pro­jects. After we fin­ished our post-doc stud­ies we felt con­fi­dent enough to set up a lab and then came the op­por­tu­nity of Eu­ro­pean fund­ing. Al­bert got a starter grant from the Eu­ro­pean Union that gave us the chance to do the same re­search we were doing in the US but in a lab in Eu­rope, and so we came back to Barcelona.
Was it hard get­ting fund­ing from the Eu­ro­pean Union?
AQ: I think the suc­cess rate is about 10%. It is a two-step process: first they eval­u­ate the ex­cel­lence and nov­elty of the pro­ject, plus the CV of the per­son ap­ply­ing. If you get through that step, which is the most com­pli­cated one, you are in­vited to Brus­sels to pre­sent your pro­ject to a panel of ex­perts. Get through that, and you get the fund­ing.
You have a great lit­tle video ex­plain­ing what you do. How im­por­tant is it to reach out to the pub­lic?
ES: It is es­pe­cially im­por­tant for us be­cause our work re­lies on pub­lic fund­ing. So we have to let peo­ple know what we are doing and how our re­search is use­ful and how we hope to one day find a cure. It's hard, be­cause we aren't trained for that, but we have to com­mu­ni­cate with peo­ple and let them know what we are doing with their money.
What ex­actly is mi­to­chon­dr­ial dis­ease?
AQ: Mi­to­chon­dria are like the pow­er­houses of the cell, and every cell in your body has mi­to­chon­dria. It ba­si­cally turns all the nu­tri­ents you eat into en­ergy. Now, imag­ine a power sta­tion in a city stops work­ing, you get power fail­ure and things start to go wrong. So it is a vital part of cell func­tion and there are some cells that need this en­ergy, like in the brain. For ex­am­ple, in a city, hos­pi­tals need power all the time. It's the same in the body and when the mi­to­chon­dria are not work­ing, those cells fail and it de­vel­ops into a se­ri­ous group of ill­nesses called mi­to­chon­dr­ial dis­eases. They usu­ally af­fect chil­dren and so far we don't have any ef­fec­tive treat­ment or cure for them.
What do you do in the lab?
AQ: One mi­to­chon­dria, de­pend­ing on where it's liv­ing, is com­pletely dif­fer­ent to mi­to­chon­dria liv­ing in the cell next door. So, we want to know what makes a mu­ta­tion af­fect every sin­gle mi­to­chon­dria in your body and yet only spe­cific sets of neu­rons die, which is what makes the kids ill. Un­for­tu­nately in most cases those kids die be­cause of those neu­rons that can­not stay healthy. And yet there might be a neu­ron next door that is com­pletely healthy and ig­nores the mu­ta­tion. So, our goal is to find out what makes one neu­ron sur­vive and an­other one die, and think­ing in terms of en­ergy, what is that neu­ron using? Does it have some kind of gen­er­a­tor keep­ing it alive? Or is there some­thing lack­ing in the other? If we can fig­ure it out, we can come up with a treat­ment to make the neu­rons sur­vive.
Why chil­dren?
AQ: As I said it is en­ergy that is af­fected and when you are grow­ing up you need a lot of en­ergy, the brain is de­vel­op­ing and that's when you see the ef­fects of the dis­ease. In some cases, kids don't make it be­yond three or five years. Also it is a very rare dis­ease, so it is hard to get fund­ing from non-pub­lic sources. If you are a big com­pany, and it is a dis­ease that only af­fects a few kids, well you're not going to spend mil­lions on some­thing that is not going to give you any re­turn.
How many chil­dren does it af­fect?
ES: I think it's one out of every five thou­sand, so it's con­sid­ered a rare dis­ease. In an age­ing so­ci­ety, phar­ma­ceu­ti­cal com­pa­nies are more in­ter­ested in age­ing re­lated dis­eases.
AQ: A prob­lem is that mi­to­chon­dr­ial dis­ease is like a big um­brella that cov­ers lots of ill­nesses and each has its spe­cific fea­tures. So, if you focus on a lit­tle sub-set of mi­to­chon­dr­ial dis­ease that makes it even less fre­quent. For ex­am­ple, the one we study af­fects one in 40,000 kids. But the mech­a­nism of what is going wrong is not that dif­fer­ent from what is hap­pen­ing with other mi­to­chon­dr­ial dis­eases.
How does this dis­ease show it­self in chil­dren?
AQ: It usu­ally takes a long time for par­ents to get a di­ag­no­sis. These dis­eases are rare and there are not a lot of doc­tors spe­cialised in that. It usu­ally starts with par­ents notic­ing there is some­thing that is not nor­mal about their child: they are not hold­ing their heads up like other kids or often that the kid is not smil­ing. In fact, what we like to say we are doing is try­ing to bring a smile back to these kids. But the un­for­tu­nate thing is that even if you get the right di­ag­no­sis, there's not a lot we can do about it. Now there is a big push to make a na­tional reg­istry of all the pa­tients with mi­to­chon­dr­ial dis­ease so at least you can group them and have larger num­bers of pa­tients, and that is prob­a­bly going to help re­search.
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