2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Analysis of Glycosaminoglyans in Biological Fluids Reveals Diverging Trends in Heparan Sulfate, Dermatan Sulfate and Chondroitine Sulfate Concentrations with Age

Analysis of Glycosaminoglyans in Biological Fluids Reveals Diverging Trends in Heparan Sulfate, Dermatan Sulfate and Chondroitine Sulfate Concentrations with Age

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Pdf Summary

A study analyzed the levels of glycosaminoglycans (GAGs) in urine and amniotic fluid to investigate age-related trends. GAGs are involved in lysosomal storage disorders known as mucopolysaccharidoses (MPS), which result in organ failure and reduced life expectancy. GAG analysis is important for diagnosing and monitoring MPS patients. The study used tandem mass spectrometric (MS/MS) methods for accurate quantification of GAG species. The results showed diverging trends in the concentrations of heparan sulfate (HS), dermatan sulfate (DS), and chondroitin sulfate (CS) with age. In amniotic fluid, DS levels decreased while CS levels increased. HS levels increased in amniotic fluid but stabilized after birth. In urine, DS levels tended to increase from birth to adulthood, while CS levels decreased. The study also highlighted the variability in GAG distribution among different age groups. The findings emphasize the importance of age-specific reference ranges to improve the interpretation of diagnostic and monitoring results for MPS patients. The study cohort consisted of both male and female subjects, and no special diet or conditions were involved. The study provides valuable insights into the understanding of GAG distribution and its significance in diagnosing and monitoring MPS patients.

Asset Subtitle

Presenting Author - Iskren Menkovic, PhD; Co-Author - James A. Beasley, BS; Co-Author - Haoyue Zhang, PhD; Co-Author - Billie R. Lianoglou, MS; Co-Author - Jingwei Yu, MD, PhD, FACMG; Co-Author - Ashlee R. Stiles, PhD, FACMG; Co-Author - Paul R. Harmatz, MD; Co-Author - Sarah P. Young, PhD, FACMG;

Meta Tag

Biochemical genetics

Lysosomal Diseases

Metabolic Disorder

Co-Author James A. Beasley, BS

Co-Author Haoyue Zhang, PhD

Co-Author Billie R. Lianoglou, MS

Co-Author Jingwei Yu, MD, PhD, FACMG

Co-Author Ashlee R. Stiles, PhD, FACMG

Co-Author Paul R. Harmatz, MD

Co-Author Sarah P. Young, PhD, FACMG

Presenting Author Iskren Menkovic, PhD

Keywords

Glycosaminoglycans

GAGs

urine

amniotic fluid

age-related trends

mucopolysaccharidoses

tandem mass spectrometric

heparan sulfate

dermatan sulfate

chondroitin sulfate