Miklós Kásler - Zoltán Szentirmay (szerk.): Identifying the Árpád Dynasty Skeletons Interred in the Matthias Church. Applying data from historical, archaeological, anthropological, radiological, morphological, radiocarbon dating and genetic research (Budapest, 2021)
CHAPTER FOUR – Palaeopathological investigations
pertaining to OPLL, Nakajima et al. (2016) found that the spondin 2 (RSPO2) gene expression’s pronounced decrease could play a role. The RSPO2 gene (a member of the RSPO gene family) regulates the gene expression of ß-catenin. Patients with colon cancer were found to have RSPO2 (and RSPO3) fusion transcripts, which occur with the gene mutation of APC to the exclusion of each other, however, they probably activate the Wnt signal and could promote colon cancer (OMIM 8/16/2016). Nakajima et al. (2016) studied a hereditary DNA sequence variation marked rs374810 identified during studies, which can be found in the RSPO2 gene’s supposedly real promoter region, 116 basepairs (bp) before the RSPO2 gene’s transcription starting point. The variation of the rs374810 SNP -116T>C allele connects differently to nuclear proteins, and in an experimental environment, the “C” allele has a significantly lower promoter activity than the “T” allele in the HSCO2/8 chondrocyta cell line. This observation proves that the genotype of rs374810 SNP CT and CC can be considered a risk allele variation, which leads to significantly lower RSPO2 gene expression than the TT genotype in vivo. All of this leads us to the conclusion that the RSPO2 gene, when in the presence of the risk allele of the rs374810 SNP predisposes to OPLL, albeit to a small degree. With regards to the fact that the pathomechanisms of OPLL and Forestier’s disease are probably identical (one being ossification of the ligamentum longitudinale next to the vertebrae on the back side, while the other is the same on the front side), we could presume that the RSPO2’s significantly decreased transcription activity plays a role in the emergence of Forestier’s disease along with dietary factors. 100
