The Effects of Polymorphisms of Death Pathway Genes and Mitochondrial Pathway Genes in Intervertebral Disc Degeneration.
OBJECTIVE
It has been proposed that apoptosis is effective on intervertebral disc degeneration. This study is the first study in which both polymorphisms and expressions of apoptotic genes in patients with intervertebral disc degeneration (IVDD) are evaluated together. The aim of our study is to determine whether polymorphisms and expressions of apoptotic genes involved in both pathways are related with grades of IVDD or not.


METHODS
Blood and tissue samples of 100 patients diagnosed with lumbar disc degeneration were collected. Patients were divided into 2 groups according to their radiological degeneration grades; grade 2 (mild), and grade 3 and 4 (severe). Polymorphisms in Fas (rs 2234767), Bcl-2 (rs 1801018) and Bax (rs 4645878) genes were determined with real-time PCR. Expressions of these genes were analyzed immunohistochemically following histological degeneration scoring.


RESULTS
Whereas no relationship was found among polymorphisms of Fas and Bax genes and their expressions, we have determined a relationship among GG genotype of Bcl-2 and their expressions. Additionally, the ratio of Bax-positive cells was related with IVDD grades. Moreover, radiological degeneration grades were compatible with histological degeneration scores.


CONCLUSIONS
GG genotype of Bcl-2 gene may influence the level of its expression and may be effective on the development of IVDD. Additionally, expression of Bax gene may be related with different grades of IVDD.
Balıkesir University, Faculty of Medicine, Department of Medical Genetics, Balıkesir, Turkey.
Betul
B
Eser
Olcay
O
Eser
Esra
E
Aslan
Habibullah
H
Dolgun
D000328:Adult; D017209:Apoptosis / Q000235:genetics*; D005260:Female; D019254:Genes, bcl-2 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007403:Intervertebral Disc / Q000473:pathology; D055959:Intervertebral Disc Degeneration / Q000235:genetics* / Q000473:pathology; D008159:Lumbar Vertebrae / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D011110:Polymorphism, Genetic; D051028:bcl-2-Associated X Protein / Q000235:genetics*; D019014:fas Receptor / Q000235:genetics*
C491901:FAS protein, human; D051028:bcl-2-Associated X Protein; D019014:fas Receptor