Dataset

DZNE-2023-00755

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Dataset: Mitochondrial DNA sequences of familial (maternal vs. non-maternal) ALS cases in whole blood, platelets and white blood cells

Brockmann, S. J. ; Buck, E.DZNE* ; Casoli, T. ; de Meirelles, J. L.DZNE* ; Ruf, W.DZNE* ; Fabbietti, P. ; Holzmann, K. ; Weishaupt, J. H. ; Ludolph, A. C.DZNE* ; Conti, F. ; Danzer, K. M. (Corresponding author)DZNE*

2023
Gene Expression Omnibus

Abstract: To address the question of whether mtDNA mutations might play a role in familiar ALS (fALS), mtDNA was isolated from whole blood (WB), white blood cells (WBC) and platelets (PLT) from fALS patients and the mitochondrial genome was analyzed using a mtDNA resequencing array (Affymetrix MitoChip v2.0) that allows detection of low-level heteroplasmy in addition to the conventional homoplasmic or heteroplasmic mutations. We distinguished between fALS cases with a prominent maternal (mat) inheritance pattern and fALS cases that do not point to a maternal inheritance pattern (non-mat). As additional controls we compared our results to healthy age and sex matched individuals without any known neurodegenerative background. With this we are aiming to get a deeper insight into a possible role of mtDNA alterations acting as a disease modifier in a subgroup of ALS patients presenting with a maternal transmission of the disease.

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Contributing Institute(s):

1. Mechanisms of Propagation (AG Danzer)
2. Clinical Study Center Ulm (Clinical Study Center Ulm)

Research Program(s):

1. 352 - Disease Mechanisms (POF4-352) (POF4-352)
2. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2023

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Linked articles:

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Brockmann, S. J. ; Buck, E. (First author)DZNE* ; Casoli, T. ; de Meirelles, J. L.DZNE* ; Ruf, W.Extern* ; Fabbietti, P. ; Holzmann, K. ; Weishaupt, J. H. ; Ludolph, A. C.DZNE* ; Conti, F. ; Danzer, K. M. (Last author)DZNE*
Mitochondrial genome study in blood of maternally inherited ALS cases.
Human genomics 17(1), 70 (2023) [10.1186/s40246-023-00516-1]2023   Files  Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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