Genetic Mutation Studies Shed New Light on Schizophrenia

Title: Genetic Mutation Studies Shed New Light on Schizophrenia
Website: Reuters
Author: Kate Kelland
Date: January 22, 2014
http://www.reuters.com/article/2014/01/22/health-schizophrenia-genes-idUSL5N0KW1IY20140122

Summary: 1 in 100 people worldwide have the psychiatric illness known as schizophrenia. People diagnosed with schizophrenia have genetic mutations in specific proteins, key to the workings and the development of the brain. These gene mutations are found in the people affected, however, they are not found in either of the parents. Scientists can conclude that these gene mutations are not inherited. Researchers also found that the causes of schizophrenia are similar to the causes of other brain disorders like autism and intellectual disabilities. Scientists do not know for sure what brings on this illness, but they believe it is the combinations of genetic predisposition and environmental factors. Researchers examined DNA blood samples from 623 schizophrenia patients and their parents at the Icahn School of Medicine at Mount Sinai, New York, the Broad Institute of the Massachusetts Institute of Technology, from Harvard, and from Britain's Cambridge University. In another study, the gene sequences of more than 2,500 people with schizophrenia were analyzed. They found that genetic mutations contribute to triggering schizophrenia and that these mutations are clustered in proteins that are involved in modulating the strength of connections between the nerve cells, and they are a part of brain development, learning, memory, and cognition.

Relevance: This article is relevant to what we have been learning about this term because it talks about genetic mutations, inheritance, DNA blood sampling, and proteins. The genetic mutations found near the proteins of people with schizophrenia, fail to code for certain proteins or enzymes that are key to the regular workings of the brain. In this term we have talked about how the sequence of bases in genes code for proteins. If there is a gene mutation, like chromosomal mutations or mutations in the sequence of bases, it can affect the whole outcome and it can cause a failure to produce a functioning protein. From inheritance we learned that in order for the parents to pass down these gene mutations, they have to have been in gametes. However, these mutations are not inherited, and they are located in mostly brain cells. Also, this article talks about DNA blood sampling in order to conduct research about what these mutations are affecting in the brain. Scientists had to retrieve DNA from people with this illness in order to see where the mutations are located. They still do not yet know what genes are affected even with the DNA blood sampling and the sequencing of each person’s genes.