Studies of DNA (as a sequence)

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The course deals with the role of mitochondria in cancer development and progression. Bioenergetics of cancer, mitochondrial genetics and mitochondria-related signalling pathways are discussed in detail, as well as mitochondria-related aspects of cancer research such as aging, bioinformatics and mit ...
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 ...
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 ...
Cancer is always a genetic disease, as it results from genetic defects in cells. In the majority of cases, the accumulation of genetic changes in a tissue is random, and the tumour is termed sporadic. In a fraction of cases, however, all the cells of the body carry an inborn genetic defect, which in ...