title: [Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development].
abstract: We analyzed distribution of heavy neurofilament (NF-H) gene S/L-polymorphic variants in 51 patients with idiopathic motor neuron disease (MND) vs control group and in relation to superoxide dismutases (SODs) activity and thiobarbituric acid reactive substances (TBARS) level in cerebrospinal fluid (CSF), erythrocytes and blood serum. We found that individuals with homozygosity for NF-H gene short allele (S/S-genotype carriers) in MND group predominate significantly over those in control one (p < 0.001). We revealed significant increase of oxidative markers in CSF and blood serum in MDN patients vs controls (p < 0.05), but not in patients with spondylogenic myelopathy, conforming non-specific role of oxidative stress in MND pathogenesis. There were no differences between TBARS level in CSF and serum in relation to the rate of MND progression, suggesting that oxidative stress does not influence the MND course. We showed normal SOD-1 activity in erythrocytes and CSF of MND patients that argued for the absence of these antioxidant enzymes deficiency in MND without SOD-1 gene mutations. We found significant association between homozygosity for short allele (S) and increased TBARS level in CSF (p < 0.02). These findings specify the role of NF-H with lower molecular weight in MND pathogenesis and make expedient antioxidants administration to MND patients homozygous for S-allele of NF-H gene.
authors.forename: V I
authors.initials: VI
authors.lastname: Skvortsova
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: O S
authors.initials: OS
authors.lastname: Brusov
authors.forename: V B
authors.initials: VB
authors.lastname: karakhan
authors.forename: M M
authors.initials: MM
authors.lastname: Gerasimova
authors.forename: N I
authors.initials: NI
authors.lastname: Levitskaia
authors.forename: G N
authors.initials: GN
authors.lastname: Levitskiĭ
authors.forename: M I
authors.initials: MI
authors.lastname: Shadrina
authors.forename: E A
authors.initials: EA
authors.lastname: Kondrat'eva
authors.forename: A V
authors.initials: AV
authors.lastname: Alekhin
authors.forename: A V
authors.initials: AV
authors.lastname: Serdiuk
authors.forename: T M
authors.initials: TM
authors.lastname: Botvinko
mesh_terms: D000483:Alleles; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics*; D016900:Neurofilament Proteins / Q000235:genetics*; D018384:Oxidative Stress / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics*
chemical_list: D016900:Neurofilament Proteins; D021122:Protein Subunits