Plinta Klaudia, Plewka Andrzej, Wójcik-Pędziwiatr Magdalena, Zmarzły Nikola, Rudziński Marcin, Rudzińska-Bar Monika
Neurology and Stroke Department, Regional Hospital of Saint Hedwig, 45-221 Opole, Poland.
Institute of Health Sciences, University of Opole, 45-040 Opole, Poland.
J Clin Med. 2021 Jul 5;10(13):3001. doi: 10.3390/jcm10133001.
Huntington's disease (HD) is an autosomal dominant genetic disease that can be divided into preclinical and symptomatic stages. Due to the diverse HD phenotype, there is an urgent need to identify markers that would independently assess its severity. The aim of this study was to evaluate the use of plasma levels of TGF-β1 in the assessment of HD severity. One hundred HD patients and 40 healthy volunteers were included in the study. All HD patients underwent neurological and cognitive function assessment. TGF-β1 levels were determined in the plasma of all patients. The correlations between TGF-β1 levels and clinical profile and HD severity were also investigated. In symptomatic patients, cognitive decline was demonstrated, while in preclinical patients, no symptoms were found. Plasma levels of TGF-β1 in HD patients did not differ significantly from the control group and did not change with the progression of the disease. In addition, TGF-β1 levels also did not correlate with the severity of motor dysfunction. Positive correlations between plasma TGF-β1 concentration and intensity of cognitive impairment were found, but only in the early disease stage. There was no clear benefit in assessing plasma TGF-β1 levels in HD patients as a marker of disease severity.
亨廷顿舞蹈症（HD）是一种常染色体显性遗传病，可分为临床前期和症状期。由于HD的表型多样，迫切需要找到能够独立评估其严重程度的标志物。本研究旨在评估血浆中转化生长因子-β1（TGF-β1）水平在评估HD严重程度中的作用。该研究纳入了100名HD患者和40名健康志愿者。所有HD患者均接受了神经和认知功能评估。测定了所有患者血浆中的TGF-β1水平。还研究了TGF-β1水平与临床特征及HD严重程度之间的相关性。有症状的患者出现了认知功能下降，而临床前期患者未出现症状。HD患者血浆中的TGF-β1水平与对照组无显著差异，且不随疾病进展而变化。此外，TGF-β1水平也与运动功能障碍的严重程度无关。血浆TGF-β1浓度与认知障碍程度之间存在正相关，但仅在疾病早期阶段。评估HD患者血浆TGF-β1水平作为疾病严重程度的标志物并无明显益处。
