Van laboratoriumbank tot siekbed: Genetiese bevindings in skisofrenie
Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie/South African Journal of Science and Technology
| Field | Value | |
| Title | Van laboratoriumbank tot siekbed: Genetiese bevindings in skisofrenie From laboratory to the bedside: Genetic findings in schizophrenia | |
| Creator | Roos, Johannes L. | |
| Description | Die komplekse genetiese argitektuur van skisofrenie word kortliks omskryf deur na twee kontrasterende (maar konseptueel verbandhoudende) hipoteses te verwys. Bevindings van die lokus van genoomwye assosiasiestudies (GWAS) en die major-histoversoenbaarheidskompleks (MHK) op chromosoom 6 en skisofrenie word aangehaal. Klassieke aanvullingskaskade verbonde hieraan word betrek in die eliminering, of ‘snoei van sinapse’ as deel van die patogenese van skisofrenie. Daar word nader aan die siekbed van skisofreniepasiënte beweeg deur te kyk na die volgende navorsingsbevindings in pasiënte met skisofrenie in die Afrikanerbevolking:mikro-uitwissing by die 22q11.2 chromosoom as ’n spesifieke tipe skisofrenie;fenotipiese kenmerke van skisofreniepasiënte wat spontane geenmutasies dra;skisofrenie wat verwant is aan die vaderlike ouderdom (VOVS) en sosiale funksionering vroeg en later in die lewe van die pasiënte;verhoogde selfdoodrisiko in skisofreniepasiënte met koppeling aan chromosoom 13q en hoe mortaliteit in die pasiënte verlaag kan word. The complex genetic architecture of schizophrenia is briefly described with reference to two contrasting (but conceptually related) hypotheses. There is reference to genome-wide association studies (GWAS) and the major histocompatibility complex (MHC) locus on chromosome 6 and schizophrenia. Recent findings regarding structural alleles in the classical complement cascade, related to the MHC and implicated in the elimination and ‘pruning of synapses’, form part of the pathogenesis of schizophrenia. Moving closer to the bedside of schizophrenia patients, the following research findings in the Afrikaner population are discussed:micro deletion at 22q11.2 chromosome as a specific subtype of schizophrenia;phenotypical characteristics of schizophrenia patients with spontaneous gene mutations;paternal age-related schizophrenia (PARS) and social functioning early and later in the lives of these patients;increased risk of suicide in schizophrenia patients with linkage to chromosome 13q and how mortality rates can be decreased in these patients. | |
| Publisher | AOSIS | |
| Date | 2017-09-29 | |
| Identifier | 10.4102/satnt.v36i1.1431 | |
| Source | Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie; Vol 36, No 1 (2017); 8 bladsye Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie; Vol 36, No 1 (2017); 8 bladsye 2222-4173 0254-3486 | |
| Language | eng | |
| Relation |
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:
https://journals.satnt.aosis.co.za/index.php/satnt/article/view/1431/3390
https://journals.satnt.aosis.co.za/index.php/satnt/article/view/1431/3389
https://journals.satnt.aosis.co.za/index.php/satnt/article/view/1431/3391
https://journals.satnt.aosis.co.za/index.php/satnt/article/view/1431/3388
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