title: Huntington' disease--imbalance of amino acid levels in plasma of patients and mutation carriers.
abstract: Determination of the plasma amino acid (AA) levels in Huntington's disease (HD) can make it possible to find the metabolic markers used in early diagnosis. The aim of the presented study was to determine the AA profile in plasma samples from HD patients and presymptomatic carriers, compared to healthy subjects. The AA profile was analyzed with HPLC. The study concerned 59 participants: 30 subjects with abnormal CAG repeats expansion (>36) in the HTT gene, and 29 healthy subjects. Each participant was analyzed with regard to the parameters characterizing the metabolic state and protein metabolism, such as: urea, creatinine, glucose, total protein, TSH (thyroid-stimulating hormone), cortisol, ESR (erythrocyte sedimentation rate), and CRP (C-reactive protein). Simple statistical comparisons showed 5 AA to be significantly lower in the HD group, compared to the control group, i.e.: Asn, His, Leu, Ser, Thr. Creatinine and creatinine clirens were found to be lower in the HD group, compared to controls, while ESR was noticed to be higher. As a result of Canonical Discriminant Analysis, 5 of all AA assayed (Leu, Gln, Asn, Ser and Lys) were selected as variables that allow distinguishing between HD patients and healthy subjects with 75% of correctness. Concerning AA profile and biochemical markers, Canonical Discriminant Analysis detected a panel of variables (Ser, Asn, Gln, Orn, Pro, Arg, Met, Cit, Val, TSH, glucose, urea, creatinine clirens, total protein, cortisol, CRP) distinguishing HD from the control group, with 90% of correctness. Among all the parameters tested, Asn and Ser were revealed in all statistical analyses and could be considered as potential plasma HD biomarkers.
authors.affiliation: Department of Biochemistry and Biopharmaceuticals, National Medicines Institute, Warsaw, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Gruber
authors.affiliation: Department of Biochemistry and Biopharmaceuticals, National Medicines Institute, Warsaw, Poland.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Kłaczkow
authors.affiliation: Department of Biochemistry and Biopharmaceuticals, National Medicines Institute, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Jaworska
authors.affiliation: Department of Biochemistry and Biopharmaceuticals, National Medicines Institute, Warsaw, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Krzysztoń-Russjan
authors.affiliation: Department of Biochemistry and Biopharmaceuticals, National Medicines Institute, Warsaw, Poland.
authors.forename: Elżbieta L
authors.initials: EL
authors.lastname: Anuszewska
authors.affiliation: Department of Social Medicine, Poznan University of Medical Sciences, Poland.
authors.forename: Daniel
authors.initials: D
authors.lastname: Zielonka
authors.affiliation: Department of Social Medicine, Poznan University of Medical Sciences, Poland.
authors.forename: Aneta
authors.initials: A
authors.lastname: Klimberg
authors.affiliation: Department of Social Medicine, Poznan University of Medical Sciences, Poland.
authors.forename: Jerzy T
authors.initials: JT
authors.lastname: Marcinkowski
mesh_terms: D000328:Adult; D000596:Amino Acids / Q000097:blood* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D000596:Amino Acids