Session Information
Date: Wednesday, June 22, 2016
Session Title: Huntington's disease
Session Time: 12:00pm-1:30pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To use Complex I and Complex IV Human Protein Quantity Dipstick Assay Kits to analyse mitochondrial changes in buccal epithelial cells of patients with Huntington’s disease.
Background: Huntington’s disease is a CAG triplet repeat hereditary disease. Among other signs, mitochondrial dysfunction in neural cells and also in other tissues (fibroblasts, myocytes etc.) have been proven. Using a non-invasive and simple tool for fast mitochondrial changes detection could ease the research procedures. It has been shown that respiratory complex I (RC I) and IV (RC IV) deficiency in myocytes well correlates with RC I and RC IV deficiency in buccal epithelial cells (Goldenthal 2012).
Methods: We analysed a group of genetically proven Huntington’s disease patients (N=11, age 56±14 years [mean±SD]; CAG triplet count 43±2 [mean±SD]). The material was obtained using buccal epithelial swabbing. The biological material was extracted from the swabs, centrifuged at 15 000 g (4 °C) for 20 minutes and the total protein concentration was evaluated using Lowry assay. The same quantity of material according to total protein concentration from each person was analysed twice using the Complex I and Complex IV Human Protein Quantity Dipstick Assay Kits (Abcam). Additionally, a sample created by mixing equal parts of 13 healthy controls material was analysed. The strip intensities were measured repetitively and expressed as a percentage of the values of the healthy controls mix and plotted.
Results: None of the 11 and four of the 11 analysed patients showed downregulation by more than 30 % in the RC I and in the RC IV, respectively. Interestingly, two of the 11 and five of the 11 analysed patients showed RC I and RC IV upregulation by more than 30 %, respectively. Two patients with RC IV upregulation and one with RC I upregulation have been diagnosed with progressive weight loss or cachexia.
Conclusions: Complex I and Complex IV Human Protein Quantity Dipstick Assay Kits seem to be a promising non-invasive tool for detection of mitochondrial changes in peripheral tissue of patients with Huntington’s disease.
To cite this abstract in AMA style:
P. Dušek, M. Rodinová, I. Lišková, E. Trefilová, Z. Ellederová, J. Klempír, J. Roth, H. Hansíková. Fast and simple non-invasive screening tool for mitochondrial changes in Huntington’s disease [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/fast-and-simple-non-invasive-screening-tool-for-mitochondrial-changes-in-huntingtons-disease/. Accessed July 6, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/fast-and-simple-non-invasive-screening-tool-for-mitochondrial-changes-in-huntingtons-disease/