Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts

Paulina Jędrak , Magdalena Krygier , Katarzyna Tońska , Małgorzata Drozd , Magdalena Kaliszewska , Ewa Bartnik , Witold Sołtan , Emilia J. Sitek , Anna Stanisławska-Sachadyn , Janusz Limon , Jarosław Sławek , Grzegorz Węgrzyn , Sylwia Barańska


Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified. The average mtDNA/nDNA relative copy number was significantly higher in leukocytes, but lower in fibroblasts, of symptomatic HD patients relative to the control group. Moreover, HD women displayed higher mtDNA levels in leukocytes than HD men. Because this is the largest population analysed to date, these results might contribute to explanation of discrepancies between previously published studies concerning levels of mtDNA in cells of HD patients. We suggest that the size of the investigated population and type of cells from which DNA is isolated could significantly affect results of mtDNA copy number estimation in HD. Hence, these parameters should be taken into consideration in studies on mtDNA in HD, and perhaps also in other diseases where mitochondrial dysfunction occurs.
Author Paulina Jędrak (FB / DMoB)
Paulina Jędrak ,,
- Department of Molecular Biology
, Magdalena Krygier
Magdalena Krygier,,
, Katarzyna Tońska
Katarzyna Tońska,,
, Małgorzata Drozd
Małgorzata Drozd,,
, Magdalena Kaliszewska
Magdalena Kaliszewska,,
, Ewa Bartnik
Ewa Bartnik,,
, Witold Sołtan
Witold Sołtan,,
, Emilia J. Sitek
Emilia J. Sitek,,
, Anna Stanisławska-Sachadyn
Anna Stanisławska-Sachadyn,,
, Janusz Limon
Janusz Limon,,
et al.`
Journal seriesMetabolic Brain Disease, ISSN 0885-7490, (A 20 pkt)
Issue year2017
Publication size in sheets0.5
Keywords in Englishhuntington disease, mitochondrial DNA, leukocytes, dermal fibroblasts, haplogroup
ASJC Classification2804 Cellular and Molecular Neuroscience; 2728 Clinical Neurology; 1303 Biochemistry
Languageen angielski
LicenseOther; published final; Uznanie Autorstwa (CC-BY); with publication
Score (nominal)20
ScoreMinisterial score = 20.0, 24-07-2019, ArticleFromJournal
Publication indicators WoS Citations = 6; Scopus SNIP (Source Normalised Impact per Paper): 2016 = 0.798; WoS Impact Factor: 2017 = 2.441 (2) - 2017=2.481 (5)
Citation count*11 (2019-08-16)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.