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Research breakthrough targets genetic diseases
January 21, 2009A cure for debilitating genetic diseases such as Huntington's disease, Friedreich's ataxia and Fragile X syndrome is a step closer to reality, thanks to a recent scientific breakthrough.
The finding, which was published in Science on January 15, is the result of a collaboration between a team led by Dr Sureshkumar Balasubramanian at The University of Queensland's School of Biological Sciences and Professor Dr Detlef Weigel at the Max Planck Institute for Developmental Biology in Germany.
It identifies an expansion of a repeat pattern in the DNA of the plant Arabidopsis thaliana that has striking parallels to the DNA repeat patterns observed in humans suffering from neuronal disorders such as Huntington's disease and Fredereich's ataxia.
Lead researcher from UQ, Dr Balasubramanian, said being able to use the plant as a model would pave the way toward better understanding of how these patterns change over multiple generations.
"It opens up a whole new array of possibilities for future research, some of which could have potential implications for humans," Dr Balasubramanian said.
The types of diseases the research relates to, which are caused by "triplet repeat expansions" in DNA, become more severe through the generations but were difficult to study in humans due to the long timeframes involved.
A plant model with a relatively short lifespan would allow scientists to study DNA mutations over several generations, Dr Balasubramanian said.
The study, called "A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana", also had implications beyond human diseases, Dr Balasubramanian said.
While the DNA patterns were previously only seen in humans, current findings have shown the patterns occur in in distant species such as plants, providing new scope for researchers in all disciplines of biology.
A cure for debilitating genetic diseases such as Huntington's disease, Friedreich's ataxia
Lead researcher from UQ, Dr Balasubramanian, said being able to use the plant as a model would pave the way toward better understanding of how these patterns change over multiple generations.
"It opens up a whole new array of possibilities for future research, some of which could have potential implications for humans," Dr Balasubramanian said.
The types of diseases the research relates to, which are caused by "triplet repeat expansions" in DNA, become more severe through the generations but were difficult to study in humans due to the long timeframes involved.
A plant model with a relatively short lifespan would allow scientists to study DNA mutations over several generations, Dr Balasubramanian said.
The study, called "A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana", also had implications beyond human diseases, Dr Balasubramanian said.
While the DNA patterns were previously only seen in humans, current findings have shown the patterns occur in in distant species such as plants, providing new scope for researchers in all disciplines of biology.
A cure for debilitating genetic diseases such as Huntington's disease, Friedreich's ataxia
Genetic Diseases Current Events and Genetic Diseases News RSSNew research shows versatility of amniotic fluid stem cells
For the first time, scientists have demonstrated that stem cells found in amniotic fluid meet an important test of potential to become specialized cell types, which suggests they may be useful for treating a wider array of diseases and conditions than scientists originally thought.
First reconstitution of an epidermis from human embryonic stem cells
Stem cell research is making great strides. This is yet again illustrated by a study carried out by the I-STEM* Institute (I-STEM/ Inserm UEVE U861/AFM), published in the Lancet on 21 November 2009. The I-STEM team, directed by Marc Peschanski has just succeeded in recreating a whole epidermis from human embryonic stem cells.
Mechanism related to the onset of various genetic diseases revealed
Researchers at the Department of Biochemistry and Molecular Biology of Universitat Autònoma de Barcelona (UAB) have revealed the process by which proteins with a tendency to cause conformational diseases such as amyotrophic lateral sclerosis, familial amyloidotic polyneuropathy, familial amyloidotic cardiomyopathy, etc. finally end up causing them.
Rare genetic disease successfully reversed using stem cell transplantation
A recent study by Scripps Research Institute scientists offers good news for families of children afflicted with the rare genetic disorder, cystinosis.
ISU researchers working to develop, market embryonic test for bovine genetics
Looking at the genetic makeup of cattle to determine their value is nothing new.
Technique enables efficient gene splicing in human embryonic stem cells
A novel technique allows researchers to efficiently and precisely modify or introduce genes into the genomes of human embryonic stem cells (ESCs) and induced pluripotent stem (iPS) cells, according to Whitehead scientists.
Unstable proteins can cause premature ageing
The normal ageing process has long been linked to problems with cell respiration, the process through which the cells extract energy from nutrients.
'Corrective genes' closer thanks to enzyme modification
Scientists from the Université de Montréal and McGill University have re-engineered a human enzyme, a protein that accelerates chemical reactions within the human body, to become highly resistant to harmful agents such as chemotherapy, according to a new study published in The Journal of Biological Chemistry.
Research sheds light on cause of Down syndrome and other genetic disorders
Scientists have a better understanding of what causes an abnormal number of chromosomes in offspring, a condition called aneuploidy that encompasses the most common genetic disorders in humans, such as Down syndrome, and is a leading cause of pregnancy loss.
New map of genomic variations will enable disease research
Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses--a reference standard of deletions and duplications of DNA found in the human genome.
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