Stem Cell Research Helps to Identify Origins of Schizophrenia

Posted on 1 May 2013 by Stem Man

New University at Buffalo research demonstrates how defects in an important neurological pathway in early development may be responsible for the onset of schizophrenia later in life.

The UB findings, published in Schizophrenia Research (paper at http://bit.ly/Wq1i41), test the hypothesis in a new mouse model of schizophrenia that demonstrates how gestational brain changes cause behavioral problems later in life – just like the human disease.

Partial funding for the research came from New York Stem Cell Science (NYSTEM).

The genomic pathway, called the Integrative Nuclear FGFR 1 Signaling (INFS), is a central intersection point for multiple pathways of as many as 160 different genes believed to be involved in the disorder.

“We believe this is the first model that explains schizophrenia from genes to development to brain structure and finally to behavior,” says lead author Michal Stachowiak, PhD, professor in the Department of Pathology and Anatomical Sciences in the UB School of Medicine and Biomedical Sciences. He also is director of the Stem Cell Engraftment & In Vivo Analysis Facility at the Western New York Stem Cell Culture and Analysis Center at UB.

A key challenge with the disease is that patients with schizophrenia exhibit mutations in different genes, he says.

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First direct whole-genome measure of human mutation predicts 60 new mutations in each of us

Posted on 19 August 2012 by Stem Man

Each one of us receives approximately 60 new mutations in our genome from our parents.

This striking value is reported in the first-ever direct measure of new mutations coming from mother and father in whole human genomes published today.

For the first time, researchers have been able to answer the questions: how many new mutations does a child have and did most of them come from mum or dad? The researchers measured directly the numbers of mutations in two families, using whole genome sequences from the 1000 Genomes Project. The results also reveal that human genomes, like all genomes, are changed by the forces of mutation: our DNA is altered by differences in its code from that of our parents. Mutations that occur in sperm or egg cells will be ‘new’ mutations not seen in our parents.

Although most of our variety comes from reshuffling of genes from our parents, new mutations are the ultimate source from which new variation is drawn. Finding new mutations is extremely technically challenging as, on average, only 1 in every 100 million letters of DNA is altered each generation.

Previous measures of the mutation rate in humans has either averaged across both sexes or measured over several generations. There has been no measure of the new mutations passed from a specific parent to a child among multiple individuals or families.

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Genetics of Fragile X Syndrome

Posted on 3 August 2012 by Stem Man

While only a small portion of autism spectrum disorders (ASDs) can be traced to their genetic roots, those that can are most often part of Fragile X syndrome (FXS), the most commonly known single-gene cause of autism. FXS is associated with the loss of the FMR protein (FMRP) coded by the mental retardation gene 1, FMR1 gene.

While scientists understand the biochemical nuances of these mutations, their implications on neuronal development and function remain a mystery. To address this puzzle, HSCI Associate Faculty member Stephen Haggarty, PhD, reprogrammed a series of both mutated and non-mutated cells back into a stem cell state in which they have the ability to derive new tissues.

Haggarty and his team found that the FMR1 mutations present in the induced pluripotent stem cells (iPSCs) do not always resemble those in the naturally occurring cells from which they came. This offers valuable information as other researchers begin to design investigations using these iPSCs.

Additionally, the team used the cell lines to generate a variety of neuronal cell types. While FMRP loss did not prevent neurodevelopment, it did impact cell quality, suggesting an important role for FMRP early in human neurodevelopment. These findings will allow researchers to characterize existing drugs and develop new therapies for the treatment of some ASDs.

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Random mutations in leukemia related to aging, not cancer

Posted on 22 July 2012 by Stem Man

Hundreds of mutations exist in leukemia cells at the time of diagnosis, but nearly all occur randomly as a part of normal aging and are not related to cancer, new research shows.

Scientists at Washington University School of Medicine in St. Louis have found that even in healthy people, stem cells in the blood routinely accumulate new mutations over the course of a person’s lifetime. And their research shows that in many cases only two or three additional genetic changes are required to transform a normal blood cell already dotted with mutations into acute myeloid leukemia (AML).

The research is published July 20 in the journal Cell.

“Now we have a very accurate picture of how acute leukemia develops,” says senior author Richard K. Wilson, PhD, director of The Genome Institute at Washington University. “It’s not hundreds of mutations that are important but only a few in each patient that push a normal cell to become a cancer cell. Finding these mutations will be important for identifying targeted therapies that can knock down a patient’s cancer.”

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Scientists create mammalian cells with single chromosome set

Posted on 4 July 2012 by Stem Man

Researchers have created mammalian cells containing a single set of chromosomes in research funded by the Wellcome Trust and EMBO. The technique should allow scientists to better establish the relationships between genes and their function.

Mammal cells usually contain two sets of chromosomes – one set inherited from the mother and one from the father. The genetic information contained in these chromosome sets helps determine how our bodies develop. Changes in this genetic code can lead to or increase the risk of developing disease.

To understand how our genes function, scientists manipulate the genes in animal models – such as the fruit fly, zebrafish and mice – and observe the effects of these changes. However, as each cell contains two copies of each chromosome, determining the link between a genetic change and its physical effect – or ‘phenotype’ – is immensely complex.

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