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.
- MeSH
- alely MeSH
- alfa-1-antitrypsin krev genetika MeSH
- Alzheimerova nemoc krev genetika MeSH
- apolipoprotein C-III krev genetika MeSH
- apolipoproteiny E krev genetika MeSH
- dítě MeSH
- dospělí MeSH
- frekvence genu MeSH
- glykoproteiny krev genetika MeSH
- glykosylace MeSH
- isoelektrická fokusace MeSH
- lidé středního věku MeSH
- lidé MeSH
- neurodegenerativní nemoci krev epidemiologie genetika MeSH
- Parkinsonova nemoc krev genetika MeSH
- senioři MeSH
- sexuální faktory MeSH
- stárnutí fyziologie MeSH
- transferin genetika metabolismus MeSH
- vaskulární demence krev genetika MeSH
- věkové faktory MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- MeSH
- Alzheimerova nemoc krev patologie MeSH
- dospělí MeSH
- glutathion krev MeSH
- homocystein fyziologie krev MeSH
- lidé MeSH
- prediktivní hodnota testů MeSH
- rizikové faktory MeSH
- senioři MeSH
- sulfhydrylové sloučeniny MeSH
- vaskulární demence krev patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
