PXD075974

PXD075974 is an original dataset announced via ProteomeXchange.

Title	Impaired mitochondrial DNA maintenance in NAFLD: associations between mtDNA copy number, mtDNA damage and BER factors
Description	Non-alcoholic fatty liver disease (NAFLD) is characterized by mitochondrial dysfunction and oxidative stress, potentially compromising mitochondrial DNA (mtDNA) integrity. The contribution of base excision repair (BER) to mtDNA maintenance in NAFLD remains poorly understood. Here, we analyzed mtDNA copy number, mtDNA and nuclear DNA damage, and the expression and mitochondrial protein levels of key BER components in leukocytes from NAFLD patients and healthy controls. NAFLD was associated with increased mtDNA and nuclear DNA damage and reduced mtDNA copy number. Gene expression of the BER-initiating glycosylase NEIL1 and downstream factor APEX1 was decreased, whereas LIG1 was upregulated. Proteomic analysis further revealed lower mitochondrial levels of APEX1, PARP1, FEN1, XRCC1, OGG1 and DNLI3 (encoded by LIG3) in NAFLD. MtDNA copy number positively correlated with BER gene expression, while mtDNA damage showed inverse associations. These results highlight a coordinated impairment of mitochondrial BER in NAFLD, linking defective repair to mtDNA instability and mitochondrial dysfunction.
HostingRepository	PRIDE
AnnounceDate	2026-08-17
AnnouncementXML	Submission_2026-08-16_16:10:15.620.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Bianka Swiderska
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Orbitrap Astral

Revision	Datetime	Status	ChangeLog Entry
0	2026-03-21 15:07:29	ID requested
⏵ 1	2026-08-16 16:10:16	announced

Zi, ó, ł, kowska S, Kosmalski M, Ś, widerska B, Szczypiorowska A, Jarmusz K, Ejsmont M, Wr, ó, blewski AM, Szemraj J, Pietras T, Jab, ł, kowska A, Czarny P, Altered Mitochondrial Base Excision Repair and Mitochondrial DNA Instability in Peripheral Leukocytes of Patients with MASLD. Cells, 15(15):(2026) [pubmed]

10.3390/cells15151415;

submitter keyword: PRM,leukocytes, mitochondria, Evosep One, Orbitrap Astral, SureQuant

Sylwia Ziółkowska
contact affiliation	Department of Medical Biochemistry, Medical University of Lodz, 92-215 Lodz, Poland
contact email	sylwia.ziolkowska@umed.lodz.pl
lab head
Bianka Swiderska
contact affiliation	Mass Spectrometry Laboratory, Institute of Biochemistry and Biophysics Polish Academy of Sciences
contact email	bianka.swiderska@gmail.com
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD075974
     1. Label: PRIDE project
     2. Name: Impaired mitochondrial DNA maintenance in NAFLD: associations between mtDNA copy number, mtDNA damage and BER factors