Associate Professor Patricia Crock - Selected Publications
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Koichiro H, Sobue G, Oka Y and Permutt MA. A novel gene encoding a putative transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome). Nature Genetics (1998) 20:143-148.
A/Prof Crock was part of the international collaborative group that discovered the gene for Wolfram syndrome – a rare form of diabetes with associated neurodegeneration. The Australian family involved in the study were pivotal to finding the gene due to a recombinant genetic event. This project illustrates the importance of developing international networks and collaborations for the study of rare diseases – A/Prof Crock has been successful in establishing a number of such collaborations in other areas.
Smith, C.A.J., Crock, P.A , King, B. and Scott R.J. Genetic Characterization of A Series of Wolfram Syndrome Patients. Diabetes Care (2004) 27:2003-2009.
Wolfram syndrome is a rare predisposition to early onset diabetes in association with intellectual impairment, and optic atrophy and deafness. Of particular importance is the development of early onset diabetes in this syndrome. By studying syndromes like this much can be learned about more common forms of the disease, as there is a very high likelihood that some of the molecular events underlying the loss of insulin production will be similar in the general population.
Bensing S, Kasperlik-Zaluska AA, Czarnocka B, Crock PA, Hulting A-L. Autoantibodies against pituitary proteins in patients with adrenocorticotropin deficiency. European Journal of Clinical Investigation (2005) 35:126-132.
A/Prof Crock developed the first immunoblotting (IB) assay for the detection of anti-pituitary autoantibodies. This recent study used the IB approach to identify a novel 36 kDa protein as a target autoantigen in ACTH deficiency. It was part of an ongoing collaborative study in pituitary autoimmune disease with the Karolinska Institute in Stockholm. There are very few laboratories working in this field and we are recognized as experts in this field.
Crock P, Salvi M, Miller A, Et Al. Detection Of Anti-Pituitary Autoantibodies By Immunoblotting. Journal Of Immunological Methods (1993) 162(1):31-40
This report represented a new approach to the detection of anti-pituitary autoantibodies by immunoblotting. This method distinguishes pituitary membrane fraction from cytosolic fraction autoantigens and characterizes them by their molecular weight. A 45 kDa pituitary specific membrane protein was identified as an autoantigen in one of 19 patients with idiopathic growth hormone deficiency and the empty sella syndrome. A 43 kDa membrane protein in pituitary and brain was identified as an autoantigen in one other patient with idiopathic growth hormone deficiency and in one of 14 patients with secondary growth hormone deficiency. The importance of this report is indicated by the fact that anti-pituitary autoantibodies can be demonstrated by immunoblotting is a very useful method for the detection of anti-pituitary autoantibodies.
Esteem Factors
- A/Prof Crock is currently Vice-President of APEG (Australasian Paediatric Endocrine Group) and was President of the society from 2003 to 2005. She was the APEG representative on the Program Organising Committee for the International Paediatric Endocrine Meeting in Lyon, France, 2005.
- She is recognized as an expert in the field of pituitary autoimmunity and has the only laboratory in Australia that runs pituitary autoantibody testing (research basis).
- She has a number of collaborations with laboratories in Europe looking at the Molecular Genetic diagnosis of Paediatric Endocrine conditions.
- A/Prof Crock is on an advisory committee to MSMR for Paediatric Pharmaceutical trials.