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Rapid Generation of Amyloid from Native Proteins In vitro
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Amyloidosis in alkaptonuria.

Lia Millucci1, Daniela Braconi, Giulia Bernardini

  • 1Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100, Siena, Italy.

Journal of Inherited Metabolic Disease
|April 15, 2015
PubMed
Summary
This summary is machine-generated.

Alkaptonuria (AKU), a rare metabolic disorder, involves homogentisic acid (HGA) accumulation and ochronotic pigment. This study investigates AKU as a secondary amyloidosis, finding abnormal serum amyloid A (SAA) levels in patients.

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Genetics

Background:

  • Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism.
  • It results from homogentisic acid oxidase deficiency, leading to homogentisic acid (HGA) accumulation.
  • This accumulation forms an ochronotic pigment of unknown composition, with hypothesized roles for unidentified proteins.

Purpose of the Study:

  • To review evidence linking AKU to amyloidosis.
  • To investigate the presence and role of serum amyloid A (SAA) in AKU.
  • To report initial findings on SAA serum levels in AKU patients.

Main Methods:

  • Literature review of direct and indirect evidence for amyloidosis in AKU.
  • Analysis of serum samples from a cohort of AKU patients.
  • Quantification of serum amyloid A (SAA) levels.

Main Results:

  • Evidence supports the classification of AKU as a secondary amyloidosis.
  • Abnormal serum amyloid A (SAA) levels were observed in AKU patients.
  • This suggests a potential link between HGA accumulation and amyloid deposition.

Conclusions:

  • AKU exhibits characteristics of a secondary amyloidosis.
  • Abnormal SAA levels in AKU patients warrant further investigation.
  • Understanding the role of SAA may offer new therapeutic targets for AKU.