Luteinizing hormone receptor mutations in ferrets with hyperadrenocorticism
Meek, Sabine Johanna
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Approximately 0,6% of Dutch ferrets has a chance to get hyperadrenocorticism, with symptoms of symmetrical alopecia, pruritus, vulvar swelling in neutered jills, recurrent sexual behaviour in neutered hobs, and squamous metaplasia of prostatic ductular epithelium in hobs. The diagnosis is based on high plasma androgen concentrations and one or two enlarged adrenal glands on ultrasonography. On pathology, these adrenal glands are typed as hyperplasias or tumours. Sometimes these enlarged glands also ACTH-independently produce cortisol. Neutering has a very high correllation with the onset of tumorigenesis, but the real cause is not clear. A hypothesis is that on reaction to the gonadectomy-induced high plasma LH concentration, the non-functional splice variant [LH-R Δ exon 9] in the adrenal glands is down-regulated. Instead, a functional LH-R arises, which activates the cells to produce androgens. The aim of the present study was to search for mutations on the LH-R sequences of ferrets suffering from hyperadrenocorticism. The results are that no mutations have been found on the LH-Rs of 14 hyper-/neoplastic adrenal gland tissues, on the second half of exon 11. on exon 6, a part of exon 7 and a part of exon 11. Between the last part of exon 7 and exon 10, there appears to be a point mutation in most of the tumorous tissues, on base 950 on exon 10, which will not have any phenotypic consequences. One carcinoma possibly expresses a new splice variant ([LH-R Δ exon 7] or [LH-R Δ exon 10]). Further research should be done.