Vitamine D-receptor polymorfismen

30 januari 2018

Door: Marleen Nys

Vitamine D-deficiëntie blijkt gelinkt aan vele ziekten, maar een tekort is zeker niet de enige factor die hier speelt. Ook genetische variaties van het gen voor de vitamine D-receptor (VDR) beïnvloeden de correcte activatie van de bijhorende pathways. De VDR is een intracellulaire receptor die voorkomt in praktisch alle lichaamscellen, en die bij activatie (door vitamine D) in de celkern de transcriptie van proteïnen start. Er zijn al vele polymorfismen van deze receptor bekend die de werking van vitamine D kunnen beïnvloeden, in positieve zin, maar vaak vooral negatief.

Hierbij is natuurlijk ook de vitamine D-status van groot belang. Hoe lager deze is, hoe minder activatie van de VDR. Vitamine D-deficiëntie is op zich al endemisch in noordelijke streken, maar zelfs een adequate vitamine D-verzadiging kan onvoldoende zijn bij bepaalde polymorfismen, met als gevolg een hoger risico op tal van ziekten. Een hogere vitamine D-verzadiging kan (allicht) de VDR-werking verbeteren, en risico’s verlagen. Maar te weten komen of bepaalde polymorfismen een rol spelen, is voorlopig niet eenvoudig. Hopelijk brengt het ‘Humane Genome Project’ (HGP, 1998-2003), waarin de structuur van het menselijke DNA werd ontrafeld, binnenkort een oplossing. Via speciale computerprogramma’s wordt het nu ook mogelijk om het individuele genoom te bepalen, evenals de aanwezigheid van mutaties, SNP’s en polymorfismen. Zo wordt het mogelijk hieruit individuele ziekterisico’s af te leiden.

Vitamine D is eigenlijk een steroïdhormoon. Het is een van de oudste hormonen en heeft ontelbare en gevarieerde functies. Naast het calciummetabolisme is het betrokken bij de regulering van talloze immunitaire, hormonale, metabole en neurologische processen. Deze regulerende rol ontstaat voornamelijk via het starten van DNA-transcripties in de celkern. Vitamine D wordt voor 80-90 procent in het lichaam gesynthetiseerd, via een unieke metabole pathway, onder invloed van ultraviolet licht.

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Bronvermelding:

Inleiding
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Ontwikkeling-zwangerschap
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Neuro
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Spier en botmetabolisme en frailty
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Besluit
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