Tag Archives: Mutation

Scientists create mammalian cells with single chromosome set

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
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Cambridge researchers create mammalian cells with single chromosome set

Researchers from the University of Cambridge have created mammalian cells containing a single set of chromosomes for the first time 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, 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
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Berlin, Germany – Stem cell transplant cures HIV in patient

Stem cell transplantation in a 42-year-old HIV patient with leukemia has wiped out the virus from his body, the doctor of Berlin Charité Hospital confirms.
“The patient is fine,” said Dr. Gero Hutter, a haematologist at the Berlin Charité Hospital. “Today, two years after his transplantation, he is still without any signs of HIV disease and without antiretroviral medication.”

The doctor observed that using the stem cells from a donor who carries a unique gene mutation i.e. delta 32 ccr5 along with a tissue match, could now cure the patient from the HIV virus. Delta 32 ccr5 makes the cells resistant
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Lots of genetic mutations in a healthy supercentenarian

Genetic mutations are commonly studied because of links to diseases such as cancer; however, little is known about mutations occurring in healthy individuals. In a study published online in Genome Research, researchers detected over 400 mutations in healthy blood cells of a 115-year-old woman, suggesting that lesions at these sites are largely harmless over the course of a lifetime.

Our blood is continually replenished by hematopoietic stem cells that reside in the bone marrow and divide to generate different types of blood cells, including white blood cells. Cell division, however, is error-prone, and more frequently dividing cells, including the blood,
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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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