Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The AGT gene to be involved in hypertension, hypertensive complications, and diabetic nephropathy is discussed by several publications.
The mutation is very common worldwide. The frequency of the T-allel wird in caucasien is 36%. It seems to exist race differences in allel frequencies and its influence on the development of hypertensive injuries.
The gene AGT is 12kb in size. It consists of 4 exons. Gen locus is on chromosome 1 (1q42-q43).
Hypertension is a very common disease. It is influenced by many genes. The angiontensinogene mutation has a modifying function. It is suggested that hypertensive injuries especially in kidney and heart develop earlier. It is suggestive too that these patients will have a good benefit from ACE-inhibitor therapy.
Angiotensinogen is a peptide hormone. It is secreted as a prohormone and will be activated extracellulary by renin (REN) and angiotensin-converting-enzyme (ACE). These extracallular activators have an important function in regulating the hormone.The renin-agiotensin-system (RAS) playes an important role in boo pressure regulation: Activated angiotensinogen, angiotensin II, is a potent vasoconstrictor and a stimulator of the synthesis of aldosterone. In the kidney microcirculation and glomerular filtrationsrate will be influenced. in clinical studies the influence on the development of hypertensive injuries could be shown.In case of M235T mutation plasma levels of angiotensinogen are elevated. According the enzyme kinetics a higher substrate concentration will result in a higher concentration of product. This way the hypertensive angiotensin II is elevated too. This can explaine the correlation of this mutation to hypertension.
Patients with hypertension with a known family risk for hypertensive injuries.
The importance of the genetic test lays in the estimation of the prognosis an the decision to ACE inhibitor therapy.
| 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 |
| Clinic | Method | Target mutation analysis |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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