Tag Archives: Mutation

Genetics of Fragile X Syndrome

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
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Children with older father risk to develop malformations

Researchers now recognize that older age in a father can increase the risk that his children will develop a variety of disorders, including autism, schizophrenia, even a common form of dwarfism. The question is, how?

Now, in Stem Cell Reports, a research team has solved the problem for one such disease, Apert syndrome, and says its findings may extend to other paternal age-associated disorders. It is testing those disorders to see if that is true.

Scientists have for some time believed that the mutation for Apert syndrome — in which children are born with a disfigured skull, face, hands and feet
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Stem Cell Research Helps to Identify Origins of Schizophrenia

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
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Random mutations in leukemia related to aging, not cancer

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

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
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