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Familial Isolated Pituitary Adenoma (FIPA)
  1. FIPA Patients
  2. Research

Research

There is intensive research in the field of FIPA. The main centres are in the UK, Finland, Belgium, Italy, France and Brazil.

More than 100 clinical specialists (endocrinologists and geneticist) as well as numerous basic scientist from over 20 countries are working intensively to answer the outstanding burning questions about this disease.

Our centre at St. Bartholomew's Hospital in London is one the largest one, where both clinical research as well as basic research is conducted to understand the mechanism of the disease and correlate that with the unique features of the clinical syndrome.

Our study has been updated with the General Data Protection Regulation (GDPR) rules. Please click here to read more about this.

The questions our studies attempt to answer:

  1. What are clinical characteristics of FIPA?
  2. What are the clinical differences between patients with sporadic pituitary disease, patients with AIP mutation positive FIPA and patients with AIP mutation negative FIPA?
  3. How is the disease inherited?
  4. What is the reason behind the incomplete penetrance?
  5. How individual gene variations cause the disease?
  6. How can we predict who will develop the disease?
  7. What is the structure and function of AIP?
  8. What are the genes causing the disease in families with normal AIP gene?
  9. What are the histological features of the disease?
  10. What is the mechanism of effect of lack of AIP, how can this situation lead to adenoma formation?
  11. Does AIP play a role in the development of other diseases?
  12. What is the role of the environment of pituitary adenoma manifestation?

We are actively collecting patients and their families into our study and encourage patients to contact us if they believe they have familial pituitary adenoma or childhood onset pituitary disease. Please click here to contact us.

Figure 1. Human AIP

Figure 1 is a three dimensional model of AIP based on the crystal structure of a structurally related protein (Chahal et al., Trends in Endocrinology and Metabolism, 2010). The AIP protein has three pairs of conserved anti-parallel alpha-helices (tetratricopeptide domains, TPR) and a final extended alpha-helix, alpha-7. These helical structures were shown to be important for the protein-protein binding and antiproliferative action of AIP (Leontiou et al., Journal of Clinical Endocrinology and Metabolism, 2008).

References

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