Hypertension (high blood pressure) is the commonest chronic condition in western societies, and can lead to strokes, heart attacks and kidney failure. In a disease known as primary aldosteronism (PAL), hypertension results from the excessive production of the salt-retaining hormone, aldosterone, by the the body's adrenal glands. In some patients, this is due to the growth of an aldosterone-producing adrenal tumour. Recent work performed within the Hypertension Unit at Greenslopes Hospital and co ....Hypertension (high blood pressure) is the commonest chronic condition in western societies, and can lead to strokes, heart attacks and kidney failure. In a disease known as primary aldosteronism (PAL), hypertension results from the excessive production of the salt-retaining hormone, aldosterone, by the the body's adrenal glands. In some patients, this is due to the growth of an aldosterone-producing adrenal tumour. Recent work performed within the Hypertension Unit at Greenslopes Hospital and continued by these investigators within the Hypertension Unit at Princess Alexandra Hospital has shown that PAL is the commonest potentially curable form of hypertension, accounting for at least 5% and possibly 10% of patients. Several lines of evidence accumulated by these investigators, including the detection of a new familial variety of PAL (Familial Hyperaldosteronism Type II or FH-II), suggest that PAL is a genetic disorder. The study sets out to locate the genetic defect causing PAL by comparing genetic material collected from affected members of these families with that from non-affected members, and by comparing genes from patients with PAL with those of unrelated, unaffected individuals. Once the genetics of this condition is understood, affected persons can be detected early in life, and even at birth, and the ill-effects of their developing conditions prevented.Read moreRead less
Epimutations As Germ-line Defects In Hereditary Cancer Syndromes
Funder
National Health and Medical Research Council
Funding Amount
$385,925.00
Summary
Traditionally familial cancers were thought to be caused and inherited by spelling mistakes within the genetic code of cancer prevention genes. Our group has found that a 'chemical coat' around the MLH1 gene, causing it to be switched off, can also be inherited in some cases of bowel cancer, without any mistakes within the gene's code. We will determine if this 'coat' causes other types of cancer and if this runs in families. We also hope to find out how the coat is formed and may be reversed.
Germline Mutations Identified In Melanoma-prone Kindreds Can Impair The Function Of The P14ARF Tumour Suppressor
Funder
National Health and Medical Research Council
Funding Amount
$257,036.00
Summary
Approximately 10% of people in Australia are at high risk of developing melanoma because they carry a faulty gene. Many of these melanoma-prone individuals carry a single mutation that can disrupt two genes, p16INK4a and p14ARF. These genes are both involved in regulating the growth of cells via different pathways. The role of p16INK4a in cancer development is well established and the many functions of this gene are under intense investigation. In contrast, the role of p14ARF in melanoma progres ....Approximately 10% of people in Australia are at high risk of developing melanoma because they carry a faulty gene. Many of these melanoma-prone individuals carry a single mutation that can disrupt two genes, p16INK4a and p14ARF. These genes are both involved in regulating the growth of cells via different pathways. The role of p16INK4a in cancer development is well established and the many functions of this gene are under intense investigation. In contrast, the role of p14ARF in melanoma progression has not been studied. We will be analysing in detail how faulty p14ARF promotes uncontrolled cell growth and cancer development. Our research, will dissect the functions of p14ARF and determine whether p14ARF and p16INK4a co-operate in maintaining normal cell growth. This work is essential to our understanding of melanoma development and will provide clinically useful information regarding the biology of human cancer.Read moreRead less