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CONGENITAL ABNORMALITIES IN PROTEIN SYNTHESIS …

Recall that proteins are constructed through a two step process . In the first step, DNA is transcribed to produce messenger RNA (mRNA) . The second step involves thetranslation of the mRNA to make a protein. Antisense drugs interact with mRNA, preventing them from being translated into their corresponding protein.

DNA, Mutations, Protein Synthesis & Genetic Disorders: ..

Normally, a virus infects a cell when its genetic material enters it. Once the viral genetic material is inside, it "hijacks" the cell's DNA- and protein-making machinery, causing it to produce new viruses. Some viruses are even capable of integrating their own genetic material into the host cell's genome.

DNA MUTATIONS PROTEIN SYNTHESIS GENETIC ENGINEERING ..

Tutorial on genetic information and protein synthesis

Chromosomes are X-shaped objects found in the of most cells. They consist of long strands of a substance called deoxyribonucleic acid, or DNA for short. A section of DNA that has the genetic code for making a particular protein is called a gene.

In a paper published today in the online edition of Nature Neuroscience, a research team led by Mark Bear, the Picower Professor of Neuroscience in MIT’s Picower Institute for Learning and Memory, showed that two very different genetic causes of autism and intellectual disability disrupt protein synthesis at synapses, and that a treatment developed for one disease produced a cognitive benefit in the other. The research was performed by postdoc and lead author Di Tian, graduate student Laura Stoppel, and research scientist Arnold Heynen, in collaboration with scientists at Cold Spring Harbor Laboratory and Roche Pharmaceuticals.

Effects of Mutation o Interfere with protein synthesis o Suppress ..

One heritable cause of intellectual disability and autism is fragile X syndrome, which arises when a single gene on the X chromosome, called FMR1, is turned off during brain development. Fragile X is rare, affecting one in about 4,000 individuals. In previous studies using mouse models of fragile X, Bear and others discovered that the loss of this gene results in exaggerated protein synthesis at synapses, the specialized sites of communication between neurons.

Cooper MK, Wasif CA, Krakowiak PA, et al. (2003) A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nature Genetics 33: 508–513.

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Genetic Disorders And Faulty Protein

Are we treating the symptom or treating the cause? Historically, genetic disorders have been treated by addressing the biological events that result from the genetic mutation, as opposed to fixing a defective gene (or genes) the ultimate source of the problem. For example, the treatment of diabetes has historically involved the administration of insulin (a protein), instead of fixing the defective genes in pancreatic cells that actually prevent these cells from producing insulin in the proper amounts, on their own.

Protein Synthesis & the Genetic ..

Of particular interest, they found that this protein synthesis was stimulated by the neurotransmitter glutamate, downstream of a glutamate receptor called mGluR5. This insight led to the idea, called the mGluR theory, that too much protein synthesis downstream of mGluR5 activation gives rise to many of the psychiatric and neurological symptoms of fragile X. Bear’s lab tested this idea in mice, and found that inhibiting mGluR5 restored balanced protein synthesis and reversed many defects in the animal models.

Appreciate that protein synthesis, ..

Another cause of autism and intellectual disability is the loss of a series of genes on human chromosome 16, called a 16p11.2 microdeletion. Some of the 27 affected genes play a role in protein synthesis regulation, leading Bear and colleagues to wonder if 16p11.2 microdeletion syndrome and fragile X syndrome affect synapses in the same way. To address this question, the researchers used a mouse model of 16p11.2 microdeletion, created by Alea Mills at Cold Spring Harbor Laboratory.

When protein synthesis is taking ..

Using electrophysiological, biochemical, and behavioral analyses, the MIT team compared this 16p11.2 mouse with what they already had established in the fragile X mouse. Synaptic protein synthesis was indeed disrupted in the hippocampus, a part of the brain important for memory formation. Moreover, when they tested memory in these mice, they discovered a severe deficit, similar to fragile X.

Protein Synthesis - Notes - Biology | Mrs. McComas

Both and viruses are being developed as vectors for use in gene therapy. Viruses are an excellent choice for use as vectors, because they have gained, through long periods of evolution, the ability to avoid destruction by the human immune system, and the capacity to get their own genetic material inside human cells. As discussed in the Bio Building Blocks section , viruses consist of genetic material (DNA or RNA) surrounded by a protective coat made of proteins and occasionally other molecule types as well.

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