PMID: 24364452Dec 25, 2013Paper

Huntington' disease--imbalance of amino acid levels in plasma of patients and mutation carriers

Annals of Agricultural and Environmental Medicine : AAEM
Beata GruberJerzy T Marcinkowski

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%...Continue Reading

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