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What percentage of familial melanoma patients have mutated CDKN2A genes?
GaleEncyofMedicine
There are mutations in up to 50% of familial melanoma patients of the tumor-suppressing gene CDKN2A.
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∙ 13y ago
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Is there a gene related to colon or rectal cancer?
In patients with colon or rectal cancer, the p53 gene is mutated 70% of the time
What is the importance of Receptor-mediated Endocytosis in the genetic disorder Familial Hyper-Cholesterolemia?
In mammalian cells, the LDL (low density lipoprotein) receptor transports cholesterol into the cell via receptor-mediated endocytosis. The cholesterol is then used by the cell for various metabolic functions and the receptor is recycled to the plasma membrane.In patients suffering from Familial Hypercholesterolemia, the genes encoding the LDL receptor are mutated, as a result of which cholesterol is unable to bind to the LDL receptor. This leads to accumulation of cholesterol in the circulation, hence causing disease. Patients suffering from this disease are treated using drugs called Statins, which inhibit an important enzyme involved in cholesterol biosynthesis.
What does the prognosis for mitochondrial myopathies depend on?
Life expectancy for a person with a mitochondrial myopathy depends on many different circumstances, including the percentage of mtDNA that is mutated, the type of mutation, and the tissue in which it is mutated
What are mutated genest Mutated genes are mutated genes?
i dont no
What's Melanoma?
A number of rare mutations, which often run in families, are known to greatly increase one's susceptibility to melanoma. One class of mutations affects the gene CDKN2A[disambiguation needed]. An alternative reading frame mutation in this gene leads to the destabilization of p53, a transcription factor involved in apoptosis and in fifty percent of human cancers. Another mutation in the same gene results in a non-functional inhibitor of CDK4, a [cyclin-dependent kinase] that promotes cell division. Mutations that cause the skin condition Xeroderma Pigmentosum (XP) also seriously predispose one to melanoma. Scattered throughout the genome, these mutations reduce a cell's ability to repair DNA. Both CDKN2A and XP mutations are highly penetrant[clarification needed].Familial melanoma is genetically heterogeneous,[8] and loci for familial melanoma have been identified on the chromosome arms 1p, 9p and 12q. Multiple genetic events have been related to the pathogenesis (disease development) of melanoma.[9] The multiple tumor suppressor 1 (CDKN2A/MTS1) gene encodes p16INK4a - a low-molecular weight protein inhibitor ofcyclin-dependent protein kinases (CDKs) - which has been localised to the p21 region of human chromosome 9.[10]Other mutations confer lower risk but are more prevalent in the population. People with mutations in the MC1R gene, for example, are two to four times more likely to develop melanoma than those with two wild-type (typical unaffected type) copies of the gene. MC1R mutations are very common; in fact, all people with red hair have a mutated copy of the gene.Two-gene models of melanoma risk have already been created,[citation needed] and in the future, researchers hope to create genome-scale models that will allow them to predict a patient's risk of developing melanoma based on his or her genotype.In addition to identifying high-risk patients, researchers want to identify high-risk lesions (abnormal area of tissue) within a given patient. Many new technologies, such as optical coherence tomography(OCT), are being developed to accomplish this. OCT allows pathologists to view 3-D reconstructions of the skin and offers more resolution than past techniques could provide. In vivoconfocal microscopy and fluorescently tagged antibodies are also proving to be valuable diagnostic tools.Mutation of the MDM2 SNP309 gene is associated with increased risk of melanoma in younger women.[11
What does 'C Myc' stand for in medicine?
C-MYC in medicine stands for Cellular Myelocytomatosis Oncogene. It is a gene which, when mutated, is involved in the formation of cancer. It was first recognised in Burkitt's Lymphoma patients.
What is the cause of fatal familial insomnia?
FFI typically occurs between the ages of 40 and 60, and is characterized by progressive sleep disturbance classified as untreatable insomnia, ataxia (motor dysfunction), and dysautonomia (sensory dysfunction).
Do dogs eaqt mutated rats?
dogs do eat mutated rats they also lick them!!
Splinter is what type of creature?
Depending on the version, he is either a mutated rat, or a mutated human.
Can a human be mutated?
no
Where can you get the mutated spores on Maplestory?
you get mutated spores in mushroom kingdom, but its only lvls 30-40
What phobia is the fear being mutated?
There does not seem to be a scientific name to describe the fear of being mutated.
