ArticleMediators of inflammation2014
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient.
Article in Mediators of inflammation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 53 citations in OpenAlex.
- Captopril Pretreatment Produces an Additive Cardioprotection to Isoflurane Preconditioning in Attenuating Myocardial Ischemia Reperfusion Injury in Rabbits and in Humans.Mediators of inflammation · 2015Trial
- An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.Journal of cellular physiology · 2024Article
- Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.The Indian journal of medical research · 2024Article
- HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.Cells · 2024Article
- Review
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Isolated Valve Amyloid Deposition in Aortic Stenosis: Potential Clinical and Pathophysiological Relevance.International journal of molecular sciences · 2024Article
- Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria.International journal of molecular sciences · 2022Article
- Article
- Melanins as Sustainable Resources for Advanced Biotechnological Applications.Global challenges (Hoboken, NJ) · 2021Review
- Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria.International journal of molecular sciences · 2021Article
- Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.Orphanet journal of rare diseases · 2020Article
- Interplay between Oxidative Stress, Inflammation, and Amyloidosis in the Anterior Segment of the Eye; Its Pathological Implications.Oxidative medicine and cellular longevity · 2020Review
- Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MS.JIMD reports · 2019Article
- Recent advances in the noninvasive strategies of cardiac amyloidosis.Heart failure reviews · 2016Review
- A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria.Clinical rheumatology · 2016Article
- Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.Journal of inherited metabolic disease · 2015Article
- Amyloidosis in alkaptonuria.Journal of inherited metabolic disease · 2015Review
- Chondroptosis in alkaptonuric cartilage.Journal of cellular physiology · 2015Article
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAlkaptonuria, a rare autosomal recessive metabolic disorder caused by deficiency in homogentisate 1,2-dioxygenase activity, leads to accumulation of oxidised homogentisic acid in cartilage and collagenous structures present in all organs and tissues, especially joints and heart, causing a pigmentation called ochronosis. A secondary amyloidosis is associated with AKU. Here we report a study of an aortic valve from an AKU patient.
resultsCongo Red birefringence, Th-T fluorescence, and biochemical assays demonstrated the presence of SAA-amyloid deposits in AKU stenotic aortic valve. Light and electron microscopy assessed the colocalization of ochronotic pigment and SAA-amyloid, the presence of calcified areas in the valve. Immunofluorescence detected lipid peroxidation of the tissue and lymphocyte/macrophage infiltration causing inflammation. High SAA plasma levels and proinflammatory cytokines levels comparable to those from rheumatoid arthritis patients were found in AKU patient.
conclusionsSAA-amyloidosis was present in the aortic valve from an AKU patient and colocalized with ochronotic pigment as well as with tissue calcification, lipid oxidation, macrophages infiltration, cell death, and tissue degeneration. A local HGD expression in human cardiac tissue has also been ascertained suggesting a consequent local production of ochronotic pigment in AKU heart.
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Registered trials
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