Sunday, October 14, 2012

Molecular Medicine

Fundamental research on molecular aspects of genetics, regulation of gene expression and protein synthesis has been paying of in clinical medicine at a rapidly accelerating rate.

1.One early dividend was an understanding of the mechanisms by which antibiotics exert there effects.Almost all act by inhibiting protein synthesis at one or another of the steps described previously.Antiviral drugs act ih a similar way; for example,acyclovir and ganciclovir act by inhibiting DNA polymerase.Some of these drugs have this effect primarily in bacteria,but others synthesis in the cells of other animals,including mammals.This fact makes antibiotics of great value for research as well as for treatment of infections.

2.Single genetic abnormalities that cause over 600 human diseases have now been identified.Many of the diseases are rare,but others are more common and some cause conditions that are sever and eventually fatal.Examples include the defectively regulated
C1 channel in cystic fibrosis and the unstable trinucleotide repeats in various parts of the genome that cause Huntington`s disease
the fragile X syndrome,and several other neurologic diseases .   

3.Abnormalities in mitochondrial DNA can also cause human diseases such as lebers hereditary optic neuro pathy and some forms of cardiomy opathy.

4.Not surprisingly,genetic aspects of cancer are probably receiving the greatest current attention.Some cancers are caused by oncogenes,genes that are carried in the genomes of cancer cells and are responsible for producing there malignant properties.These
genes that are carried in the genomes of cancer cells and are responsible for producing their malignant properties.These genes are
derived by somatic mutation from closely growth. Over 100 oncogens have been described.  

5.Another group of gents produce proteins that suppress tumors,and more then 10 of these tumor suppressor genes have been described.The most studied of these is the p53 gene on human chromosome 17.The p53 protein produced by this gene triggers apoptosis.It is also a nuclear transcription factor that appears to increase production of a 21-kDa protein that blocks two cell cycle enzymes,slowing the cycle and permitting repair of mutations and other defects in DNA.The p53 mutated in up to 50% of human cancers,with the production of p53 proteins that fail to slow the cell cycle and permit other mutations in DNA to persist.The accumulated mutations eventually cause cancer.                  

 

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