IS THAT THE R171Q AMINO ACID VARIANT IN EXON 3 OF THE MEN1 GENE IS RELATED TO AGE, TO PLAY A MUTATING ROLE?

Abstract

Background/aim: Several studies demonstrated that the R171Q amino acid variant in exon 3 of MEN1 gene is a polymorphism, and in some new studies it is probably a mutation. We found in our study of twelve cases, two young cases have this variant and developed multiple endocrine neoplasia type1.

Materials and methods: twelve MEN1 young patients (7 female, 5 male) aged between 20 and 40 years old, were included in our study.

After investigating each patient, biochemical and molecular researches is done. We sequenced exon 3 of the MEN1 gene of patients and some members of their families.

Results: Ten patients have MEN1 syndrome and they have no mutation in MEN1 gene. Two patients from separated families have a c.512G>A heterozygote variant. Phenotypically the two cases have hyperparathyroidism in young age. One of them developed others tumors later.

Conclusion: The R171Q variant is a mutation in some cases; causes hyperparathyroidism and will develop further MEN1 lesions later, and it is just a polymorphism in other cases. We believe that when this polymorphism combines with young age in severe depression, it will lead to MEN1 syndrome, which will make this polymorphism considered a genetic mutation