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Serum Proteome Alterations in Human Cystathionine β-Synthase Deficiency and Ischemic Stroke Subtypes
Marta Sikora1, Izabela Lewandowska2, Małgorzata Kupc3
1European Centre for Bioinformatics and Genomics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 60-965 Poznań, Poland. martas@ibch.poznan.pl.
Insights
Cystathionine β-synthase deficiency (CBS) and ischemic stroke share common molecular pathways, particularly involving the acute phase response and coagulation systems. This suggests similar underlying mechanisms contribute to both conditions.
Area of Science:
- Biochemistry
- Neurology
- Metabolic Disorders
Background:
- Ischemic stroke causes brain injury through various vascular mechanisms.
- Cystathionine β-synthase (CBS) deficiency, a metabolic disorder, is linked to thromboembolism, a major cause of stroke-related mortality.
- The similar involvement of brain vasculature suggests potential shared molecular pathologies between CBS deficiency and ischemic stroke.
Purpose of the Study:
- To investigate the molecular phenotypes of CBS deficiency and ischemic stroke subtypes.
- To identify shared serum protein expression patterns and affected molecular pathways.
- To explore common mechanisms underlying CBS deficiency and different ischemic stroke subtypes.
Main Methods:
- Label-free mass spectrometry was employed to quantify serum proteome changes.
- CBS-deficient patients (n=10) and controls (n=14) were analyzed.
- Patients with cardioembolic (n=17), large-vessel (n=26), and lacunar (n=25) ischemic stroke subtypes were also studied.
Main Results:
- Forty differentially expressed serum proteins were identified in CBS deficiency, with 18 linked to elevated homocysteine (Hcy) and 22 Hcy-independent.
- Hcy-independent protein changes were also observed in ischemic stroke subtypes, with some unique to specific subtypes.
- Significant overlaps in affected proteins and molecular pathways (acute phase response, coagulation, NFκB networks) were found between CBS deficiency and ischemic stroke subtypes, especially cardioembolic stroke.
Conclusions:
- CBS deficiency and ischemic stroke subtypes exhibit overlapping molecular phenotypes.
- Common molecular pathways, including acute phase response and coagulation, are implicated in both conditions.
- These findings suggest shared underlying mechanisms in the pathogenesis of CBS deficiency and ischemic stroke.
Abstract:
Ischemic stroke induces brain injury via thrombotic or embolic mechanisms involving large or small vessels. Cystathionine β-synthase deficiency (CBS), an inborn error of metabolism, is associated with vascular thromboembolism, the major cause of morbidity and mortality in affected patients. Because thromboembolism involves the brain vasculature in these patients, we hypothesize that CBS deficiency and ischemic stroke have similar molecular phenotypes. We used label-free mass spectrometry for quantification of changes in serum proteomes in CBS-deficient patients (n = 10) and gender/age-matched unaffected controls (n = 14), as well as in patients with cardioembolic (n = 17), large-vessel (n = 26), or lacunar (n = 25) ischemic stroke subtype. In CBS-deficient patients, 40 differentially expressed serum proteins were identified, of which 18 were associated with elevated homocysteine (Hcy) and 22 were Hcy-independent. We also identified Hcy-independent differentially expressed serum proteins in ischemic stroke patients, some of which were unique to a specific subtype: 10 of 32 for cardioembolic vs. large-vessel, six of 33 for cardioembolic vs. lacunar, and six of 23 for large-vessel vs. lacunar. There were significant overlaps between proteins affected by CBS deficiency and ischemic stroke, particularly the cardioembolic subtype, similar to protein overlaps between ischemic stroke subtypes. Top molecular pathways affected by CBS deficiency and ischemic stroke subtypes included acute phase response signaling and coagulation system. Similar molecular networks centering on NFκB were affected by CBS deficiency and stroke subtypes. These findings suggest common mechanisms involved in the pathologies of CBS deficiency and ischemic stroke subtypes.
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