In de grootste genetische studie ooit naar schizofrenie – waarvan de resultaten zijn gepubliceerd in Nature – zijn vele genen geïdentificeerd die een belangrijke rol zouden kunnen spelen in de psychiatrische stoornis. Een team van honderden onderzoekers uit 45 landen analyseerde DNA van 76.755 mensen mét schizofrenie en 243.649 zonder schizofrenie, om de genen en biologische processen die aan de aandoening ten grondslag liggen, beter te begrijpen.
287 regio’s in het menselijk genoom
De studie werd gecoördineerd door het Psychiatric Genomics Consortium en vond een veel groter aantal genetische verbanden met schizofrenie dan ooit tevoren: in 287 verschillende regio’s van het menselijk genoom. Risico op schizofrenie werd gedetecteerd in genen die voornamelijk tot expressie komen in neuronen, maar niet in ander weefsel of celtypes. Deze studie biedt een enorme verbetering in het definiëren van de genetische basis van schizofrenie en markeert een belangrijke stap voorwaarts in ons begrip van de oorsprong van schizofrenie. De bevindingen stellen onderzoekers in staat om zich te concentreren op specifieke hersenprocessen in de voortdurende zoektocht naar nieuwe therapieën voor deze geestesziekte.
1 op 300 mensen
Schizofrenie is een ernstige psychiatrische stoornis die begint in de late adolescentie of vroege volwassenheid. Volgens de Wereldgezondheidsorganisatie (WHO) treft schizofrenie ongeveer 1 op de 300 mensen, op enig moment in hun leven. Deze nieuwe studie vergroot niet alleen het aantal verbanden tussen genetische variatie in de populatie en de ziekte enorm, maar ook het aantal verbanden met specifieke genen. Dat is een noodzakelijke stap in de moeilijke klus om de oorzaken van deze aandoening te begrijpen en nieuwe behandelingen te bepalen.
Diversiteit aan symptomen
Hoewel er grote aantallen genetische varianten betrokken zijn bij schizofrenie, toont dit onderzoek aan dat ze geconcentreerd zijn in genen die tot expressie komen in neuronen en hun contactplaatsen, de synapsen. Dit betekent dat dit belangrijke plaatsen zijn als startpunt voor vervolgonderzoek. De bevindingen suggereren verder dat een abnormale functie van neuronen bij schizofrenie veel hersengebieden aantast, wat de diversiteit aan symptomen zou kunnen verklaren, zoals hallucinaties, wanen en problemen met helder denken.
Wetenschappers van de VU, Amsterdam UMC en uit Utrecht en Groningen hebben aan dit onderzoek meegewerkt. Op de website van de VU is meer te lezen over het onderzoek.
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