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Neurological disorder in golden retriever dogs caused by a mutation in mitochondrial DNA
May 29, 2009Sensory ataxic neuropathy (SAN) is a recently identified neurological disorder in Golden Retriever dogs with onset during puppyhood. Affected dogs move in an uncoordinated manner and have sensory deficits. Researchers from the Swedish University of Agricultural Sciences, Uppsala University and the Karolinska Institutet have now revealed that SAN is caused by a mutation in mitochondrial DNA. The study is published May 29 in the open-access journal PLoS Genetics.
The researchers were able to trace back all affected offspring on the maternal side, over more than 10 generations, to a female that lived during the 1970s. This implied a maternal inheritance, which was confirmed by the identification of a one base pair deletion in the mitochondrial tRNA-Tyr gene. Further analyses revealed that the mutation leads to mitochondrial dysfunction, which in turn causes a progressive loss of neurons.
The researchers showed that about five percent of the current Swedish Golden Retriever population carries the mutation causing SAN. The identification of the mutation now allows genetic screening tests to identify carriers and prevent the mutation being transmitted to further generations.
"This is a good example of how a close collaboration between clinicians and geneticists led to a rapid detection of a harmful mutation that can now be eliminated from this dog population to reduce suffering and disease," said co-author Karin Hultin Jäderlund. The study also provides a new animal model for similar mitochondrial disorders in humans, said co-author Izabella Baranowska, and could potentially be used for testing therapeutic approaches.
Public Library of Science
"This is a good example of how a close collaboration between clinicians and geneticists led to a rapid detection of a harmful mutation that can now be eliminated from this dog population to reduce suffering and disease," said co-author Karin Hultin Jäderlund. The study also provides a new animal model for similar mitochondrial disorders in humans, said co-author Izabella Baranowska, and could potentially be used for testing therapeutic approaches.
Public Library of Science
Mitochondrial Current Events and Mitochondrial News RSSTags reveal white sharks have neighborhoods in the north Pacific, say Stanford researchers
The white shark may be the ultimate loner of the ocean, cruising thousands of miles in a solitary trek, but a team of researchers has discovered that the sharks have maintained such a consistent pattern of migration that over tens of thousands of years the white sharks in the northeastern Pacific Ocean have separated themselves into a population genetically distinct from sharks elsewhere in the world.
The first men and women from the Canary Islands were Berbers
A team of Spanish and Portuguese researchers has carried out molecular genetic analysis of the Y chromosome (transmitted only by males) of the aboriginal population of the Canary Islands to determine their origin and the extent to which they have survived in the current population.
Promising novel treatment for human cancer -- Chrysanthemum indicum extract
A series of studies have demonstrated that Chrysanthemum indicum possesses antimicrobial, antiinflammatory, immunomodulatory, and neuroprotective effects.
Whale-sized genetic study largest ever for southern hemisphere humpbacks
After 15 years of research in the waters of the South Atlantic and Indian Oceans, scientists from the Wildlife Conservation Society, the American Museum of Natural History, and an international coalition of organizations have unveiled the largest genetic study of humpback whale populations ever conducted in the Southern Hemisphere.
Too much of a good thing? Scientists explain cellular effects of vitamin A overdose and deficiency
If a little vitamin A is good, more must be better, right? Wrong! New research published online in the FASEB Journal shows that vitamin A plays a crucial role in energy production within cells, explaining why too much or too little has a complex negative effect on our bodies.
How mitochondrial gene defects impair respiration, other major life functions
Researchers are delving into abnormal gene function in mitochondria, structures within cells that power our lives. Mitochondria are the place where energy is generated from the most basic molecules of food. Because this function is essential to life, defects in mitochondria may affect a wide range of organ systems in humans and animals.
New research provides new insight into age-related muscle decline
If you think the air outside is polluted, a new research report in the September 2009 issue of the journal Genetics might make you to think twice about the air inside our bodies too.
Can an over-the-counter vitamin-like substance slow the progression of Parkinson's disease?
Rush University Medical Center is participating in a large-scale, multi-center clinical trial in the U.S. and Canada to determine whether a vitamin-like substance, in high doses, can slow the progression of Parkinson's disease, a neurodegenerative disorder that affects about one million people in the United States.
CU-Boulder team identifies DNA barcodes to help track illegal trading of wildlife products
Researchers from several institutions including the University of Colorado at Boulder have sequenced DNA "barcodes" for as many as 25 hunted wildlife species, providing information that can be used to better monitor the elusive trade of wildlife products, or bushmeat.
Barcoding endangered sea turtles
Conservation geneticists who study sea turtles have a new tool to help track this highly migratory and endangered group of marine animals: DNA barcodes.
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Mitochondrial Blues [Explicit] Noah23 (Primary Contributor) |
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