Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Parathyroid hormone

Mutations of the PTH gene lead to dysfunction of the parathyroid hormone. The inheritance pattern is either dominant or recessive, depending on the mutation.

Protein Structure

The secreted hormone consists of 84 amino acids.

Gene Regulation

The parathormone is produced by the parathyroid gland and stored in intracellular granules. The calcium sensing receptor (CASR) controls secretion in response to droping plasma calcium levels. A small amount of hormone seems to bypass this process of regulatad secretion.

The receptor of parathormone is an G-coupled membrane protein. Its physiological effects are increased bone resorption with a net release of phosphate and calcium, and in the kidneys increased calcitriol production (CYP27B1 activation), phosphate excretion, and calcium resorption.

The proteinis is inactivated by proteolysis though some cleavage products still excert biological activity.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH

References:

1.

Arnold A et al. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.

[^]
2.

None (2000) Hyperparathyroid and hypoparathyroid disorders.

[^]
3.

Goswami R et al. (2004) Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism.

[^]
4.

NCBI article

NCBI 5741 [^]
5.

OMIM.ORG article

Omim 168450 [^]
6.

Orphanet article

Orphanet ID 118138 [^]
7.

Wikipedia article

Wikipedia EN (Parathyroid_hormone) [^]
Update: April 29, 2019