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  • Küçük Resim
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    The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome
    (2011) Demirhan, Osman; Tastemir, Deniz; Günesacar, Ramazan; Güzel, Ali; Alptekin, Davut
    Background: Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is the first report describing an important association between MBL2 gene polymorphisms and infections in children with DS. Materials and Methods: We compared the frequency of single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene in a cross sectional cohort of 166 children with DS and 229 controls. Polymorphisms at codons 54 (GGCGAC) and 57 (GGAGAA) in exon 1 of the MBL2 gene were typed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique using the restriction enzymes BshN1 (derivated from Bacillus sphaericus) and MboII (derivated from Moraxella bovis), respectively. Results: MBL2 codon 54 GA genotype frequency was found to be lower in patients with DS (22.9%) than those of healthy controls (35.8%), differences were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P = 0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was detected in none of the DS patients, but only one person in the control group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P = 1.000). Conclusion : Our data provides an evidence for the first time that a homozygote or heterozygote for the variant, MBL2 alleles, is not associated with infections in patients with DS, and do not influence the incidence of infections.
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    Structure, Function, Molecular Genetics, Disease Associations and Therapeutic Potential of Mannose Binding Lectin: Review
    (Ortadogu Ad Pres & Publ Co, 2011) Gunesacar, Ramazan; Tastemir, Deniz; Yildirim, Ayse; Eryilmaz, Naciye
    Mannose binding lectin (MBL) which is a collagen like serum protein and primarily synthesized by the liver is a significant component of natural immune response. MBL molecule provides phagocytosis of those microorganisms by macrophages or activates the lectin pathway of complement system via C3 convertase by binding on sugar groups on the surfaces of multifarious microorganisms. The MBL2 gene is located on chromosome 10 at position 10q11.2-q21 and consists of four exons and three introns. Three genetic variations named as allel B (codon 54, GGC > GAC, Gly > Asp), allel C (codon 57, GGA > GAA, Gly > Glu) and allel D (codon 52, GCT > TGT, Arg > Cys) and affecting the serum levels and trimerization of MBL protein were detected on the first exon of MBL2 gene. An association was shown between MBL2 gene codon variants or low MBL serum levels and bacterial, viral and fungal infections or autoimmunity development. An association was also detected between high MBL serum levels and renal graft rejection, diabetic nephropathy and inflammatory diseases. In this review, relationships between MBL and diseases and therapeutic potential of the molecule were summarized along with the molecular structure, function and genetics of MBL.