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Prevalence And Genetic Mechanisms Of Neurological And Gynaecological Changes In Women Carrying Small FMR1 Expansions
Funder
National Health and Medical Research Council
Funding Amount
$411,895.00
Summary
Fragile X syndrome is one of the commonest genetic forms of mental retardation. The abnormal gene is passed from mothers to their sons or daughters, on their X chromosome. The gene abnormality is unstable, tending to worsen each time it is passed on. But if this gene abnormality is passed from fathers to their daughters, it does not worsen. Therefore, grandfathers of the affected children on their mother's side, as well as the mothers, may carry a mildly abnormal gene (a premutation), insufficie ....Fragile X syndrome is one of the commonest genetic forms of mental retardation. The abnormal gene is passed from mothers to their sons or daughters, on their X chromosome. The gene abnormality is unstable, tending to worsen each time it is passed on. But if this gene abnormality is passed from fathers to their daughters, it does not worsen. Therefore, grandfathers of the affected children on their mother's side, as well as the mothers, may carry a mildly abnormal gene (a premutation), insufficient to cause mental retardation. However, it has recently been discovered that these grandfathers may develop a syndrome (FXTAS) of tremor, incoordination, slowness of movements and mild dementia in their later years. Women were thought to be protected, as they carry TWO X chromosomes, one of which is normal even if the other has a premutation. But very recent reports suggest that they may also develop the FXTAS syndrome, as well as early menopause. This study aims to see how common and severe these abnormalities are in women who carry the premutation, using clinical, MRI and electronic measurements, and to relate the abnormalities to the severity of the gene malfunction and familial predisposition.Read moreRead less
The Micro-structural Basis Of Bone Loss And Fragility After Menopause: A Longitudinal Co-twin Control Study
Funder
National Health and Medical Research Council
Funding Amount
$873,950.00
Summary
Every woman becomes postmenopausal. Not all lose bone or sustain fractures after menopause. We will identify women who lose bone and those who don't and so identify women at risk for fracture so that they can be targeted for treatment and identify those who do not need to be treated. This will be done by measuring bone structure and how strong the bone is using a new, safe, quick technology that can be used in clinical practice
LKB1 - The Link Between Obesity And Breast Cancer In Postmenopausal Women
Funder
National Health and Medical Research Council
Funding Amount
$292,216.00
Summary
Obesity is a worldwide epidemic affecting 60% of Australians and is linked to many diseases including breast cancer. Changes in sex hormone levels during menopause may cause these diseases. The focus of this proposal is to determine the role of the sex hormones to regulate a protein (LKB1) involved in both fat metabolism and cancer. This research will benefit the ageing population by making a contribution toward generating therapeutics to combat obesity and breast cancer.
BH3-only Proteins Are Critical For The Developmentally Programmed Death Of Oocytes: Impact On Ooctye Quality And The Fertile Lifespan
Funder
National Health and Medical Research Council
Funding Amount
$273,537.00
Summary
The ability of women to have healthy children, and the age at which menopause occurs, are largely dependent on the number and quality of the eggs stored in their ovaries. For unknown reasons, around two-thirds of all eggs die very shortly after they are made. We are unraveling the genes involved in determining whether an egg will live or die, and are investigating the role of these genes as _quality control sentinels", responsible for ensuring that only the highest quality eggs are ovulated.