Bermejo Valdés, A.J.; Archer Jiménez, J. Landmark Evaluation of Transferrin Glycoforms: Pioneering Congenital Glycosylation Disorder Diagnosis in Cuba. Preprints2024, 2024040893. https://doi.org/10.20944/preprints202404.0893.v1
APA Style
Bermejo Valdés, A.J., & Archer Jiménez, J. (2024). Landmark Evaluation of Transferrin Glycoforms: Pioneering Congenital Glycosylation Disorder Diagnosis in Cuba. Preprints. https://doi.org/10.20944/preprints202404.0893.v1
Chicago/Turabian Style
Bermejo Valdés, A.J. and Jessica Archer Jiménez. 2024 "Landmark Evaluation of Transferrin Glycoforms: Pioneering Congenital Glycosylation Disorder Diagnosis in Cuba" Preprints. https://doi.org/10.20944/preprints202404.0893.v1
Abstract
Glycosylation, the most significant modification of proteins, plays an essential role in cellular processes. Congenital disorders of glycosylation (CDG) are multisystemic diseases resulting from mutations affecting glycosylation steps. Diagnosis of CDG relies on biochemical assays, such as isoelectric focusing. Despite its significance, CDG cases remain unreported in Cuba due to the lack of implemented diagnostic methods. This study aimed to evaluate transferrin glycoforms for diagnosing congenital N-glycosylation defects. We conducted a cross-sectional descriptive study using serum samples from 17 patients stored at the National Center for Medical Genetics of Cuba for suspected CDG. Results revealed abnormal glycosylation patterns in 7 patients, suggesting congenital N-glycosylation defects. We conclude that the implementation of transferrin glycoform analysis could pioneer a preliminary diagnosis of CDG in Cuba.
Keywords
Congenital disorders of glycosylation; CDG; N-glycosylation; serum transferrin isoelectric focusing
Subject
Medicine and Pharmacology, Endocrinology and Metabolism
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
