ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P250 | DOI: 10.1530/endoabs.63.P250

Genetic study of AHR exonic part and GNAS intronic part mutations in some of Iraqi acromegalic patients

Abbas Mahdi Rahmah


National Diabetes Center, Baghdad, Iraq.


Acromegaly is a rare syndrome categorized by extreme excretion of growth hormone via a pituitary adenoma, happening everywhere in the world also in Iraqi population. Practically all conditions of acromegaly are produced by a benign tumor in the pituitary that creates much growth hormone. In additions, some tumors in the body may yield an element known as growth hormone releasing hormone which lead the pituitary to oversecrion of growth hormone. So this research proposed to observe the frequency of guanine nucleotide binding protein, alpha stimulating (GNAS), and aryl hydrocarbon receptor (AHR) genes mutations. Consequently, this cross sectional biochemical and molecular genetic study was achieved from December 2016 to September 2017, enrolled seventy patients (36 males, and 34 females) with somatotrophic pituitary adenoma continuously attended to the National diabetic center in Baghdad. Their ages were between 20 to 70 years old. Polymerase chain reaction (PCR) was used for the detection of gsp and AHR mutations as a cause of acromegaly, by using specific primers for amplification of partially intronic and exonic 7 of gsp gene on chromosome no.20 and exon 10 of AHR gene on chromosome no.7. Sequencing was applied for PCR products of AHR and gsp genes, six different alterations in AHR gene and two different mutations in GNAS gene have been recognized. Two were recognized in 6/70 (9%) patients which are codon 705 with substitution thymine by adenine (T/A), and codon 410 with substitution of adenine by thymine (A/T) for 817bp fragment. In addition another four recognized alteration were established in (22/70) (31%) which are codon 193 with substitution of cytocine by adenine(C/A), codon 344 with substitution of thymine by adenine(T/A), codon 459 with substitution of guanine by cytocine(G/C), and codon 518 with substitution of adenine by cytocine(A/C) and this for 706bp fragment of AHR exon 10.Two mutations in GNAS gene were recognized in 5/70 (7%) which their codon 91 with substitution cytocine by guanine(C/G), and codon 128 with substitution guanine by adenine(G/A). We concluded the novelties SNP were identified in Iraqi acromegalic patient. Genetic variationspossiblyencouraging functional irregularities of the aryl hydrocarbon receptor (AHR) pathway and guanine nucleotide binding protein, alpha stimulating (GNAS) are connected with a more severe acromegaly increased pituitary tumor mass, and somatostatin analog resistance in patients living in HR areas.

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