INVESTIGATION OF MUTATION IN ALK2 GENE IN CARDIAC ATRIOVENTRICULAR SEPTAL DEFECT PATIENTS

Volume 14 , Issue 1 , March 2024 , Pages 89-98

Authors

Rozha Sharif Othman 1 ; Aso Faeq Salih 2 ; Aumaid Umer Uthman 3

1 Department of Basic Medical Science, College of Medicine, University of Sulaimani, Kurdistan Region, Iraq.

2 Deptartment of Clinical Medical Science, College of Medicine, University of Sulaimani, Kurdistan Region, Iraq.

3 College of Veterinary Medicine, University of Sulaimani. Kurdistan Region, Iraq.

DOI logo 10.17656/jsmc.10454

Keywords

Abstract

Background
Activin Receptor-like Kinase 2 (ALK2) is identifi ed as a bone morphogenetic protein (BMP) type I receptor.
Experimental inductions have reported that a n atrioventricular septal defect (AVSD) is caused by a
mutation in ALK2 in zebrafi sh. ALK2 is one of the most infl uential factors in heart development, and mutations
in this gene have been reported to be related to AVSD.
Objectives
Investigate the known mutation at Exon 9 of the ALK2 gene and the unknown mutation in the ALK2 gene.
Defi ne if these mutations were inherited from parents or not. Investigate the regulation of the ALK2 gene.
Patients and Methods
Blood samples were collected from 24 patients suffering from AVSD. RT-PCR was applied to amplify the
ALK2 gene using primers specifi c to the Exon 9 region to investigate substitutions in R307L and L343P amino
acids, which have been reported previously. Other Exons (5, 6, 7, and 8) of ALK2 were amplifi ed for the same
reason.
Results
The results of the present study demonstrate that AVSD is more likely to appear as isolated defects where
none of the samples had a mutation in Exon 9. However, two-point mutations were found at nucleotide 519
(C T) and 939 (G A) in all investigated patients, including 15 control patients, without changing the amino
acids. Semiquantitative RT-PCR for mRNA obtained from patients at different ages indicates that there is no
regulation of the ALK2 gene at the investigated ages.
Conclusion
BMP type I receptor ALK2 is not a critical factor in AVSD, and a defi ned variation may relate to genetic
populations.

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  • Published at21 March 2024

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