Research breakthrough targets genetic diseases

Jan 20, 2009

(PhysOrg.com) -- A 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.

Provided by University of Queensland

Explore further: US scientists make embryonic stem cells from adult skin

add to favorites email to friend print save as pdf

Related Stories

Ancient Indonesian climate shift linked to glacial cycle

Mar 24, 2014

Using sediments from a remote lake, researchers from Brown University have assembled a 60,000-year record of rainfall in central Indonesia. The analysis reveals important new details about the climate history of a region ...

Who wants to be a millionaire?

Mar 19, 2014

Lotteries of different kinds have been part of the human culture since remote times. Apparently, the initial idea was to use the money gained through the game to finance government projects. This seems to be how the Great ...

Advances in glass alloys lead to strength, flexibility

Mar 04, 2014

(Phys.org) —What do some high-end golf clubs and your living room window have in common? The answer is glass, but in the golf clubs' case it's a specialized glass product, called metallic glass, with the ...

Recommended for you

Leeches help save woman's ear after pit bull mauling

Apr 18, 2014

(HealthDay)—A pit bull attack in July 2013 left a 19-year-old woman with her left ear ripped from her head, leaving an open wound. After preserving the ear, the surgical team started with a reconnection ...

New pain relief targets discovered

Apr 17, 2014

Scientists have identified new pain relief targets that could be used to provide relief from chemotherapy-induced pain. BBSRC-funded researchers at King's College London made the discovery when researching ...

User comments : 0

More news stories

Cancer stem cells linked to drug resistance

Most drugs used to treat lung, breast and pancreatic cancers also promote drug-resistance and ultimately spur tumor growth. Researchers at the University of California, San Diego School of Medicine have discovered ...

Making graphene in your kitchen

Graphene has been touted as a wonder material—the world's thinnest substance, but super-strong. Now scientists say it is so easy to make you could produce some in your kitchen.