title: [Glycosaminoglycans and their fractions in patients with hereditary neuromuscular disorders].
abstract: Hereditary neuromuscular disorders (HNMD), with population incidence 1:3000, are characterized in most cases by progressive course and treatment resistance and patient's disabling. To study the involvement of the tissue-connecting structures in the pathogenesis, glycosaminoglycans and their fractions were determined in blood serum. The test group involved 40 patients with hereditary myotonia, myodystrophy, neuropathy and spinal muscular atrophy and control one consisted of 27 healthy age- and sex-matched subjects. The study was conducted using anion exchange chromatography on DEAE-cellulose. Comparing to controls, significant increase of total glycosaminoglycans and decrease of gilauronic acid fraction (p < 0.05) were found in HNMD patients, with no differences being detected between nosologic entities. Reverse correlation (r = -0.46) was revealed between patient's age and glycosaminoglycans concentration in blood serum. We concluded on intracellular and intercellular matrix heteropolyglycans metabolism dysregulation in the patients and suggested a part of HNMD pathogenesis scheme.
authors.forename: L R
authors.initials: LR
authors.lastname: Akhmadeeva
authors.forename: R V
authors.initials: RV
authors.lastname: Magzhanov
authors.forename: S A
authors.initials: SA
authors.lastname: Bashkatov
authors.forename: A V
authors.initials: AV
authors.lastname: Sharipova
mesh_terms: D000328:Adult; D000368:Aged; D002809:Chondroitin Sulfates / Q000097:blood; D005260:Female; D006025:Glycosaminoglycans / Q000097:blood*; D019812:Heparan Sulfate Proteoglycans / Q000097:blood; D020271:Heredodegenerative Disorders, Nervous System / Q000097:blood*; D006801:Humans; D006820:Hyaluronic Acid / Q000097:blood; D008297:Male; D008875:Middle Aged
chemical_list: D006025:Glycosaminoglycans; D019812:Heparan Sulfate Proteoglycans; D006820:Hyaluronic Acid; D002809:Chondroitin Sulfates