Yeast mimics severity of mutations leading to fatal childhood illness

Dec 22, 2008

Scientists report that human gene mutations expressed in yeast cells can predict the severity of Batten Disease, a fatal nervous system disorder that begins during childhood. The new study published in Disease Models & Mechanisms (DMM), dmm.biologists.org, describes how the extent of changes in mutated cells paralleled the severity of symptoms seen in humans.

The initial, milder symptoms of Batten disease appear in children between ages 4 and 7. Children with this disorder (also known as juvenile neuronal ceroid lipfuscinosis, or JNCL) suffer vision loss and exhibit learning difficulties and behavioral changes. This is eventually followed by the appearance of seizures, and a devastating, progressive loss of mental and physical function, eventually leading to death before young adulthood.

Mutations in the gene CLN3 cause Batten Disease, but scientists do not fully understand the role of CLN3 in cell function. Thus, in order to learn more about this gene, researchers at the University College London created a variety of mutations based on CLN3 gene defects identified in Batten disease patients. They studied the effects of these mutations in a fission yeast protein highly similar to CLN3. The research team found that human mutations that caused a severe Batten disease progression likewise caused severe cell abnormalities in the yeast. Likewise, mutations found in mild cases of Batten disease resulted in less severe yeast cell changes.

Not only does this study help researchers understand the mechanism underlying Batten disease, but this yeast model can also be used to investigate therapeutic compounds to treat Batten disease and related illnesses.

Source: The Company of Biologists

Explore further: Research sheds light on epilepsy treatments – Why don't the fits stop?

add to favorites email to friend print save as pdf

Related Stories

Unraveling Batten disease

Nov 02, 2011

Waste management is a big issue anywhere, but at the cellular level it can be a matter of life and death. A Weizmann Institute study, published in the Journal of Cell Biology, has revealed what causes a molecular waste contai ...

Recommended for you

Biotech firm's GM mosquitoes to fight dengue in Brazil

4 hours ago

It's a dry winter day in southeast Brazil, but a steamy tropical summer reigns inside the labs at Oxitec, where workers are making an unusual product: genetically modified mosquitoes to fight dengue fever.

User comments : 0