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Genetic Mutation in Pit-1 Gene

Jhansi Rani K*

Department of Biochemistry, Dr. L.B. College, Andhra University, Visakhapatnam, India

*Corresponding Author:
Department of Biochemistry, Dr. L.B. College, Andhra University, Visakhapatnam, India
Tel: +91-9885352429; E-mail: [email protected]

Received date: February 15 2014 Accepted date:March 26 2014


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In the present study, we performed mutational investigation of the PIT1 qualities in a partner of 40 patients with idiopathic hypopituitarism followed in one substantial neuroendocrinology Hospital, Guntur, Andhra Pradesh, India. Since LHX4 and HESX1 are more prone to be connected with EPP, and LHX3, PIT1, PROP1, and HESX1 with NPPP, We have broke down the Pit-1 succession of three obviously autonomous families in which hypopituitary kids are homozygous and phenotypically typical folks are heterozygous for a Pro239Ser change


PIT1, Deficiency,Patient, Gene

In brief, our information show that one genetic mutation in codon 239 of the Pit-1 gene, inflicting the replacement of a serine for a proline, indicates to the phenotype of GH, PRL, and TSH deficiency and hypoplasia of the anterior pituitary, when present in each Pit-1 alleles. as a result of heterozygous individuals are seemingly unaffected, it more appears that a 50%-reduced level of Pit-1 activity is spare to confirm a general phenotype. The fresh recognized, natural, recessive Pit-1 mutation that we tend to describe has been found in precisely 3 geographical families. The comparatively frequent and seemingly exclusive incidence of this mutation during a outlined region is placing. This occurrence may be based on founder effect, the 3 families having one and customary heterozygous relation in whom this mutation 1st arose. as an alternative, we tend to could also be within the presence of a hot spot for mutations within the Pit-1 sequence among this ethnic community, discrete from the Arg271Trp hot spot that has been delineate in Caucasians and Mongolians [1-4].

POU1F1 encodes the POU1F1 transcription issue, additionally called PIT1, that is needed for the event and performance of 3 major cell lines of anterior pituitary: somatotropes, lactotropes and thyrotropes. varied mutations within the sequence secret writing POU1F1 are represented, leading to a syndrome of multiple pituitary internal secretion deficiency involving GH, PRL and thyroid-stimulating hormone hormones. POU1F1 is found on 3p11 and consists of six exons secret writing 291 amino acids. Several mutations of POU1F1 are described; some ar heritable as chromosome recessive and a few as chromosome dominant. There’s a good sort of clinical presentation in patients with POUF1 mutations [5,6].

Generally, GH and prolactin deficiencies ar seen early in life. However, thyroid-stimulating hormone deficiency is extremely variable with presentation later in childhood or traditional T4 secretion is preserved into the third decade.. To date, POU1F1 mutations are represented during a total of forty six patients from thirty four families originating in seventeen completely different countries. Recessive mutations ar typically associated with decreased activation; whereas dominant mutations are shown to bind however not transactivate-i.e. act as dominant-negative mutations, instead of through haploinsufficiency. One such mutation is that the repeated Arg271Trp (R271W), placed in desoxyribonucleic acid (exon 6), which ends from a C to T transition at a CpG dinucleotide, i.e. a section susceptible to spontaneous cause. [7,8] Another attention-grabbing mutation is that the Lys216Glu mutation of desoxyribonucleic acid (exon 5). This mutation is exclusive therein the mutant transcription issue activates each the GH and PRL promoters at levels larger than wild-type (i.e. acts as a superagonist), however down-regulates its own (i.e. the POU1F1) promoter-leading to decreased expression of PIT1. R271W is that the most frequent mutation of POU1F1. A recent report describing a completely unique alteration hot spot (E230K) in Maltese patients suggests a founder result (108). A similar cluster reportable 2 extra novel mutations inside POU1F1 gene; AN insertion of one nucleotide (ins778A) and a missense mutation (R172Q) [9-20].