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Germline mutations in the Fumarate Hydratase (FH, also known as fumarase) predispose to Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC), a tumor syndrome in which mutation carriers are at risk for developing cutaneous and uterine leiomyomas and an aggressive form of kidney cancer. Fumarat ...
Thanks to the absence of recombinatory events and repair enzymes, mitochondrial DNA is the marker of excellence when the interest is to study human population genetics. Moreover, being mitochondrion the powerhouse of the cell, any mutation involving both mitochondrial DNA and nuclear DNA regions whe ...
The mitochondria as “the aging clock” were proposed in 1972 by Harman. The theory was based on the fact that ROS (Reactive Oxygen Species) are, in physiological conditions, by-products of the OXPHOS (oxidative phosporylation) process which occurs in mitochondria. There is good agreement, today, ...
Gluscose is required for growing cells and therefore the increased vascular density of proliferating tissues serves their high glucose demand. This lecture will describe the particular metabolic pathways activated in growth and in tumors cells, that aim at directing nutrient s for biosynthesis, for ...
Continuous improvement in the health of European citizens relies on biomedical research and on citizens who participate in that research. Research today needs new, bigger and better resources. Over 200 organisations - including national funders - in 24 EU Member States are jointly planning an EU inf ...
Genetic counselling has been perhaps the most important way of assisting families with a hereditary disease in managing the consequences of the disease, and in helping individuals at-risk to find creative solutions for their problems. The increased awareness of the genetic aspects of a disease, and ...
The term screening applies to the application of a test or tests in a general population in which most individuals will be considered at low risk.1 Screening is used as a method of identifying those in the population whose risk might be significantly high to warrant the offer of further diagnostic t ...
Practical Aspects of Consent, Confidentiality and Disclosure - C. Patch
Molecular genetic testing is now available for more than 600 single gene disorders and the information from such a test can be crucial in the genetic counselling process. Is a molecular test the most appropriate option? Before ordering such a test the counsellor must decide whether the test will ...
The term screening applies to the application of a test or tests in a general population in which most individuals will be considered at low risk.1 Screening is used as a method of identifying those in the population whose risk might be significantly high to warrant the offer of further diagnostic t ...
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