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Alkaptonuria in Russia.

Andrea Soltysova^1,2, Alexandr Kuzin^3,4, Elena Samarkina³

¹Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

European Journal of Human Genetics : EJHG

|September 10, 2021

Summary

This summary is machine-generated.

Alkaptonuria (AKU) is a rare genetic disorder. This study identified 31 homogentisate 1,2-dioxygenase (HGD) gene variants in Russian AKU patients, with 14 being novel and exclusive to Russia.

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Area of Science:

Genetics
Biochemistry
Rare Diseases

Background:

Alkaptonuria (AKU) results from homogentisic acid (HGA) accumulation.
Excess HGA forms ochronotic pigment, leading to connective tissue deposition and early-onset arthropathy.

Purpose of the Study:

To analyze the homogentisate 1,2-dioxygenase (HGD) gene variant spectrum in Russian Alkaptonuria (AKU) patients.
To identify novel HGD variants and characterize the genetic landscape of AKU in Russia.

Main Methods:

Sequencing of all 14 exons and flanking intronic regions of the HGD gene.
Multiplex Ligation-dependent Probe Amplification (MLPA) analysis.
Combined analysis of two Russian AKU cohorts (total 82 families).

Main Results:

Identified 31 distinct HGD variants in 82 Russian AKU families.
Discovered 14 novel HGD variants, previously unreported and found exclusively in Russia.
The c.481G>A (p.(Gly161Arg)) variant was the most prevalent, accounting for nearly 54% of AKU alleles in the cohort.

Conclusions:

The genetic spectrum of Alkaptonuria in Russia is diverse, with a significant number of novel and region-specific HGD variants.
Understanding the specific HGD variant landscape in different populations is crucial for accurate diagnosis and potential therapeutic strategies for AKU.
The high frequency of the c.481G>A variant highlights its importance in the Russian AKU population.