Dataset Information

Proteomics in fibroblasts from mitochondrial disease patients

ABSTRACT: Evaluation of proteomic profiles in fibroblasts obtained from patients with genetically confirmed mitochondrial disease.

INSTRUMENT(S): Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture, Fibroblast

SUBMITTER: Marco Moedas

LAB HEAD: Anna Wredenberg

PROVIDER: PXD047313 | Pride | 2024-10-28

REPOSITORIES: Pride

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	20210528_HF2_01_MM_1_P01.raw	Raw
	20210528_HF2_02_MM_1_P02.raw	Raw
	20210528_HF2_03_MM_1_P03.raw	Raw
	20210528_HF2_04_MM_1_P04.raw	Raw
	20210528_HF2_05_MM_1_P05.raw	Raw

Items per page:

1 - 5 of 102

Publications

Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.

Correia Sandrina P SP Moedas Marco F MF Taylor Lucie S LS Naess Karin K Lim Albert Z AZ McFarland Robert R Kazior Zuzanna Z Rumyantseva Anastasia A Wibom Rolf R Engvall Martin M Bruhn Helene H Lesko Nicole N Végvári Ákos Á Käll Lukas L Trost Matthias M Alston Charlotte L CL Freyer Christoph C Taylor Robert W RW Wedell Anna A Wredenberg Anna A

JCI insight 20241022 20

BACKGROUNDMitochondrial diseases belong to the group of inborn errors of metabolism (IEM), with a prevalence of 1 in 2,000-5,000 individuals. They are the most common form of IEM, but, despite advances in next-generation sequencing technologies, almost half of the patients are left genetically undiagnosed.METHODSWe investigated a cohort of 61 patients with defined mitochondrial disease to improve diagnostics, identify biomarkers, and correlate metabolic pathways to specific disease groups. Clini ...[more]

PMID: 39288270

Similar Datasets

Project description:Reactive oxygen species (ROS) are active molecules involved in several biological functions. When the production of ROS is not counterbalanced by the action of protective antioxidant mechanisms present in living organisms, a condition of oxidative stress can arise with consequent damage to biological structures. The brain is one of the main ROS-generating organs in the human body, with the consequence that most neurological disorders are associated with the overproduction of ROS. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease associated with mutations in the sacsin gene (SACS). At a cellular level, ARSACS is characterized by mitochondrial impairments, a reduction of bioenergetic processes, and by both an over-production of and an over sensitivity to ROS. Several antioxidant molecules have been proposed as a potential treatment for ARSACS, such as idebenone and resveratrol. Polydopamine nanoparticles (PDNPs) gained significant attention in recent years owing to their peculiar physic-chemical properties, and especially because of their antioxidant activity. PDNPs have shown a great ROS scavenging capacity that, combined with their completely organic nature that grants them the ability to be degraded and excreted by living organisms, make them a promising candidate in the treatment of oxidative stress-related disorders. In this work we assessed the effect of PDNPs upon human fibroblasts; in particular, we investigated the effects of PDNPs on populations of fibroblasts derived from healthy subjects and of fibroblasts derived from ARSACS patients, in terms of antioxidant properties and protein expression. PDNPs interaction with fibroblasts was analyzed in terms of biocompatibility, internalization and uptake pathway, reduction of ROS levels, prevention of ROS-induced apoptosis/necrosis, and protective action upon ROS-induced mitochondrial dysfunctions. Moreover, a complete proteomic analysis of the cells was performed to assess differences in terms of protein expression upon different treatments. Altogether, our data showed that PDNPs can partially counteract ROS-induced damages in both healthy and ARSACS patients-derived fibroblasts, making them a potential therapeutic candidate to treat or at least ameliorate the condition of oxidative stress associated with ARSACS disease.