title: Microheterogeneity of some serum glycoproteins in neurodegenerative diseases.
abstract: BACKGROUND
  Participation of protein polymorphism is often considered in the pathogenesis of various diseases. Aberrant protein glycosylation has been recognized to play major roles in human disorders, including neurodegenerative diseases.
  
  
  OBJECTIVE
  The aim of the study was to examine possible involvement of protein genetic variants and degree of glycosylation of some serum glycoproteins in the manifestation of neurodegenerative disorders in a Czech population sample.
  
  
  METHODS
  Apolipoprotein (Apo) E and three main serum markers of glycosylation defects (transferrin, Tf, alpha1-antitrypsin, aAT and ApoCIII) in patients with Alzheimer's dementia (AD), Parkinson's disease (PD) and vascular dementia (n=62, 139 and 44, respectively) were analyzed by isoelectric focusing. Children with serious neurological symptoms (n=55) and three age-matched control groups (n=45, 45 and 42) were examined for comparison.
  
  
  RESULTS
  Of the supposedly pathognomonic protein variants Tf C2, aAT ZM and ApoE e4 only the latter was detected with higher frequency in AD patients; significant synergy of the C2/e4 allelic combination was not confirmed. The most prominent finding among PD adults was an increased appearance of Tf C2 allele and significant mean hypoglycosylation of ApoCIII, besides a C2/e4 positive correlation in PD seniors. Laboratory signs of Tf hypoglycosylation and a pattern of Tf/ApoCIII hyperglycosylation have been occasionally found.
authors: Department of Pediatrics, Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Králové, Czech Republic. marklova@lfhk.cuni.cz
authors: Eliška
authors: E
authors: Marklová
authors: Ziad
authors: Z
authors: Albahri
authors: Martin
authors: M
authors: Vališ
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000375:Aging / Q000502:physiology; D000483:Alleles; D000544:Alzheimer Disease / Q000097:blood / Q000235:genetics; D053305:Apolipoprotein C-III / Q000097:blood / Q000235:genetics; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics; D002648:Child; D018153:Czech Republic / Q000453:epidemiology; D015140:Dementia, Vascular / Q000097:blood / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006023:Glycoproteins / Q000097:blood* / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000097:blood* / Q000453:epidemiology / Q000235:genetics; D010300:Parkinson Disease / Q000097:blood / Q000235:genetics; D012737:Sex Factors; D014168:Transferrin / Q000235:genetics / Q000378:metabolism; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics
chemical_list: D053305:Apolipoprotein C-III; D001057:Apolipoproteins E; D006023:Glycoproteins; D014168:Transferrin; D000515:alpha 1-Antitrypsin