ArticleBiochimica et biophysica acta2012
Alkaptonuria is a novel human secondary amyloidogenic disease.
Article in Biochimica et biophysica acta, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.World journal of pediatrics : WJP · 2019Pooled it
- Plasma Proteomic Signatures in Alkaptonuria.Biology · 2026Article
- Homogentisic Acid Disrupts the Blood-Brain Barrier and Promotes Aβ Aggregation in Alzheimer's Disease.Current medical science · 2026Article
- Functional Characterization ofInternational journal of molecular sciences · 2025Article
- An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.Journal of cellular physiology · 2024Article
- HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.Cells · 2024Article
- Review
- Article
- Computational Approaches Integrated in a Digital Ecosystem Platform for a Rare Disease.Frontiers in molecular medicine · 2022Review
- A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria.Scientific reports · 2021Article
- 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
- Alkaptonuria: Current Perspectives.The application of clinical genetics · 2020Review
- Homogentisic acid-derived pigment as a biocompatible label for optoacoustic imaging of macrophages.Nature communications · 2019Article
- 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
- Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China.Medicine · 2019Article
- Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production inFrontiers in microbiology · 2018Article
- ApreciseKUre: an approach of Precision Medicine in a Rare Disease.BMC medical informatics and decision making · 2017Article
- Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan.Neurology international · 2016Article
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
Abstract
Alkaptonuria (AKU) is an ultra-rare disease developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces a HGA-melanin ochronotic pigment, of unknown composition. There is no therapy for AKU. Our aim was to verify if AKU implied a secondary amyloidosis. Congo Red, Thioflavin-T staining and TEM were performed to assess amyloid presence in AKU specimens (cartilage, synovia, periumbelical fat, salivary gland) and in HGA-treated human chondrocytes and cartilage. SAA and SAP deposition was examined using immunofluorescence and their levels were evaluated in the patients' plasma by ELISA. 2D electrophoresis was undertaken in AKU cells to evaluate the levels of proteins involved in amyloidogenesis. AKU osteoarticular tissues contained SAA-amyloid in 7/7 patients. Ochronotic pigment and amyloid co-localized in AKU osteoarticular tissues. SAA and SAP composition of the deposits assessed secondary type of amyloidosis. High levels of SAA and SAP were found in AKU patients' plasma. Systemic amyloidosis was assessed by Congo Red staining of patients' abdominal fat and salivary gland. AKU is the second pathology after Parkinson's disease where amyloid is associated with a form of melanin. Aberrant expression of proteins involved in amyloidogenesis has been found in AKU cells. Our findings on alkaptonuria as a novel type II AA amyloidosis open new important perspectives for its therapy, since methotrexate treatment proved to significantly reduce in vitro HGA-induced A-amyloid aggregates.
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