Here I present: “Thyrotropin-Releasing Hormone Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 促甲状腺激素释放激素缺乏症。(TRH).
INTRODUCTION.
Thyrotropin-releasing hormone (TRH) is a tripeptide (glu-his-pro-NH2) hormone that is primarily produced in the paraventricular nucleus of the hypothalamus and represents the most proximal member of the hypothalamic-pituitary-thyroid (HPT) axis. The major recognized function of TRH is the maintenance of thyroid hormone homeostasis via regulation of thyroid-stimulating hormone (TSH) secretion. TRH also regulates the release of other hormones, such as prolactin, growth hormone, vasopressin, and insulin’. TRH is also present in many brain loci outside of the hypothalamus and has been found in several non-neuronal tissues such as gastrointestinal tract, heart, and reproductive organs.
There is evidence that thyrotropin-releasing hormone deficiency is caused by mutation in the TRH gene on cytogenetic location 3q22.1 and genomic coordinates 3:129,974,720-129,977,935 . The screenshot of the TRH 3,216 bp (base pair) of DNA sequence length is shown BELOW. Nine (9) other genes besides TRH in the cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:129,500,001 | SLSN3 | Senior-Loken syndrome 3 |
| 3:129,528,639 | RHO | Rhodopsin (opsin 2) |
| 3:129,555,214 | PLXND1 | Plexin D1 |
| 3:129,647,792 | TMCC1 | Transmembrane and coiled-coil domain 1 |
| 3:129,974,720 | TRH | Thyrotropin-releasing hormone |
| 3:130,212,820 | COL6A4P2 | Collagen, type VI, alpha-4, pseudogene 2 |
| 3:130,345,672 | COL6A5 | Collagen, type VI, alpha-5 |
| 3:130,516,720 | COL6A6 | Collagen, type VI, alpha-6 |
| 3:130,678,934 | PIK3R4 | Phosphatidylinositol 3-kinase, subunit 4 |
| 3:130,850,595 | ATP2C1 | ATPase, Ca(2+)-sequestering |
