Genetic Disorders And Faulty Protein

"Our work is the first to link translational control of neuroligins with altered synaptic function and autism-like behaviours in mice. The key is that we achieved reversal of ASD-like symptoms in adult mice. Firstly, we used compounds, which were previously developed for cancer treatment, to reduce protein synthesis. Secondly, we used non-replicating viruses as vehicles to put a break on exaggerated synthesis of neuroligins," he stated.

Many medical conditions reflect a disorder of a protein's ..

25 Year Old Bodybuilder Died of ‘Protein Overdose’ Triggered by Genetic disorder ..

Protein recognition and disorder: a debate - Nanowerk

Proteins are large, exquisitely folded molecules that play essential and diverse roles in all living organisms. Proteins must achieve and retain a specific 3-dimensional conformation in order to function properly. If protein folding is disrupted, proteins can display sticky surfaces and aggregate through several stages eventually assembling into fibers (shown below), and such nonfunctional protein aggregates can be toxic. Protein misfolding diseases are found in multiple organs, and can be defined histopathologically by the presence of specific misfolded protein(s) deposits.

Protein recognition and disorder: a debate (Nanowerk News) ..

"We used a mouse model in which a key gene controlling initiation of protein synthesis was deleted. In these mice, production of neuroligins was increased. Neuroligins are important for the formation and regulation of connections known as synapses between neuronal cells in the brain and essential for the maintenance of the balance in the transmission of information from neuron to neuron," Prof. Sonenberg said.

The protein synthesis page provides a detailed discussion of the steps in protein synthesis and ..
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA

Glossary | Linus Pauling Institute | Oregon State University

Autism spectrum disorders (ASD) encompass a wide array of neurodevelopmental diseases that affect three areas of behaviour: social interactions, communication and repetitive interests or behaviours. According to the U.S.-based Centers for Disease Control and Prevention, 1 in 88 children suffer from ASD, and the disorder is reported to occur in all racial, ethnic, and socio-economic groups. ASDs are almost five times more common among boys (1 in 54) than among girls (1 in 252).

The protein synthesis page provides a detailed discussion of the steps in protein synthesis and various mechanisms used to regulate this process.

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Oct 19, 2009 · Use examples to explain how mutations in DNA affect protein synthesis and may lead to genetic disorders..?

Bile Acid Synthesis, Metabolism and Biological Functions