Polycystic kidney disease

Adult polycystic kidney disease (APKD) is characterized by large cysts in one or both kidneys and a gradual loss of normal kidney tissue which can lead to chronic renal failure. The role of the kidneys in the body is to filter the blood, excreting the end products of metabolism in the form of urine and regulating the concentrations of hydrogen, sodium, potassium, phosphate and other ions in the extracellular fluid.

In 1994, the European Union Polycystic Kidney Disease Consortium isolated a gene from chromosome 16, which was disrupted in a family with APCD. The protein encoded by the PKD1 gene is a membrane protein involved in cell-cell interactions and cell-matrix interactions. The role of PKD1 in the normal cell May be linked to microtubule-mediated functions, such as the placement of Na (+), K (+)-ATPase ion pumps in the membrane. Programmed cell death or apoptosis, may also be invoked in APKD. Further clarification of the pathogenesis of the disease await further research.

The so-called “CPK mouse is a well-known model of the disease in humans. The study of the molecular basis of disease in mice should allow a better understanding of the disease in humans, and hopes to arrive at more effective therapies.

Breast and ovarian cancer

Breast cancer is the second leading cause of cancer death in American women, with an estimated 44,190 were killed (290 men and 43,900 women) in the United States in 1997. While ovarian cancer accounts for fewer deaths than breast cancer, ovarian cancer represents 4% of all female cancers. In some cases these two types of cancer, there is also a clear genetic link.

In 1994, two susceptibility genes for breast cancer have been identified: BRCA1 on chromosome 17 and BRCA2 on chromosome 13. When individuals carry a mutation in either BRCA1 or BRCA2, they are at increased risk of breast cancer and ovarian cancer at a stage of their lives. Until recently, it was not clear what the function of these genes was, until studies on a protein in yeast has shown their role: they participate in the repair of radiation-induced breaks in the double-stranded DNA. It is thought that mutations in the genes BRCA1 or BRCA2 might disable this mechanism, leading to more errors in DNA replication and ultimately to cancer.

So far, the best opportunity to reduce mortality by early detection (screening the general population of BRCA1 and BRCA2 is not yet recommended). However, new strategies for finding drugs against cancer are constantly being developed. The last strategy, called “synthetic lethal screening”, the search for new drug targets in organisms such as yeast and fruit flies. In the same way that studies in yeast recently helped to identify the functions of BRCA1 and BRCA2, it is estimated that drugs that work in more primitive organisms will also be applicable to

Burkitt lymphoma

Burkitt lymphoma is a rare form of cancer that affects mostly young children in Central Africa but the disease has also been reported in other areas. The shape of Africa appears to be associated with infection by Epstein-Barr virus, although the pathogenetic mechanism is uncertain.

Burkitt lymphoma results from chromosome translocations involving the Myc gene. A chromosome is a translocation chromosome is broken, which allows it to associate with other parts of chromosomes. The classic lymophoma Burkitt chromosomal translocation involving chromosome 8, the site of the Myc gene. This changes the structure of the expression of Myc, thereby disrupting its usual function in controlling cell growth and proliferation.

We’re still not sure what causes a chromosomal translocation. However, research in model organisms such as mice is to lead us towards a better understanding of how the transfer took place and, hopefully, how this process contributes to Burkitt’s lymphoma and other cancers such as leukemia