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4.8

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0.31

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Journal of Multidisciplinary Applied Natural Science

ISSN (eletronic): 2774-3047

Vol. 6 Issue 1 (2026) Articles https://doi.org/10.47352/jmans.2774-3047.317

https://doi.org/10.47352/jmans.2774-3047.317

Molecular and Bio-informatics Analysis of BCKDHA, BCKDHB, DLD and DBT Gene Mutations in Azerbaijani Patients with Maple Syrup Urine Disease

Lala Samaddin Huseynova Aysel Rafig Hashimova Shahla Rahid Eyvazova Raya Rustam Hagverdiyeva Sevda Tariel Huseynova

Author information

Lala Samaddin Huseynova

https://orcid.org/0000-0003-2563-1493
  • royahuseynova2006@gmail.com
  • Department of Medical Biology and Genetics, Azerbaijan Medical University, Baku-AZ1022 (Azerbaijan); Department of Natural Sciences, Western Caspian University, Baku-AZ1033 (Azerbaijan)
  • Biography not informed.

Author information

Aysel Rafig Hashimova

https://orcid.org/0009-0007-0602-9233
  • ahesimova@amu.edu.az
  • Department of Normal Physiology, Azerbaijan Medical University, Baku-AZ1022 (Azerbaijan)
  • Biography not informed.

Author information

Shahla Rahid Eyvazova

https://orcid.org/0009-0001-5512-2641
  • shahlaeyvazova@gmail.com
  • Department of Normal Physiology, Azerbaijan Medical University, Baku-AZ1022 (Azerbaijan)
  • Biography not informed.

Author information

Raya Rustam Hagverdiyeva

https://orcid.org/0000-0002-5394-8749
  • rayahagverdiyeva@gmail.com
  • Department of Cytology, Embryology and Histology, Azerbaijan Medical University, Baku-AZ1022 (Azerbaijan)
  • Biography not informed.

Author information

Sevda Tariel Huseynova

https://orcid.org/0009-0003-9628-0827
  • shuseynova@amu.edu.az
  • Department of Therapeutic Dentistry, Azerbaijan Medical University, Baku-AZ1022 (Azerbaijan)
  • Biography not informed.
Published in: October 28, 2025
[1]
L. S. Huseynova, A. R. Hashimova, S. R. Eyvazova, R. R. Hagverdiyeva, and S. T. Huseynova, “Molecular and Bio-informatics Analysis of BCKDHA, BCKDHB, DLD and DBT Gene Mutations in Azerbaijani Patients with Maple Syrup Urine Disease”, J. Multidiscip. Appl. Nat. Sci., vol. 6, no. 1, pp. 210–219, Oct. 2025.

Abstract

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes, which encode subunits of the branched-chain α-keto acid dehydrogenase complex. Understanding the genetic basis of MSUD is essential for accurate diagnosis, genetic counseling, and therapeutic interventions. This study aimed to characterize mutations in the BCKDHA, BCKDHB, DBT, and DLD genes among Azerbaijani patients clinically diagnosed with MSUD. Between 2015 and 2020, blood samples were collected from 940 individuals representing various regions of Azerbaijan. Exome and Sanger sequencing were employed to detect variants in the four target genes, with Sanger sequencing used to validate exome-identified variants in BCKDHB and DBT. Structural modeling of mutant proteins was conducted using the SWISS-MODEL platform to predict the functional impact of the mutations. Four novel missense mutations were identified in three unrelated patients from the Guba–Khachmaz region: c.1221A>G, c.972C>T, and c.508C>T in the BCKDHB gene, and c.1199A>G in the DBT gene. All variants were predicted to be pathogenic and associated with amino acid substitutions that potentially disrupt protein conformation. Notably, one patient belonged to the Azerbaijani Turk ethnic group, and two were from the Lezgi community. This study reports, for the first time, novel pathogenic mutations in Azerbaijani MSUD patients, expanding the mutational spectrum of BCKDHB and DBT genes. The findings highlight the importance of ethnically tailored genetic screening and provide valuable data for molecular diagnosis, carrier detection, and the development of personalized management strategies for MSUD in Azerbaijan.

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Paper information