Yeast mimics severity of mutations leading to fatal childhood illness

December 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),, 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: Unraveling Batten disease

Related Stories

Unraveling Batten disease

November 2, 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 container ...

Recommended for you

Could 'The Day After Tomorrow' happen?

October 9, 2015

A researcher from the University of Southampton has produced a scientific study of the climate scenario featured in the disaster movie 'The Day After Tomorrow'.

Horn of Africa drying ever faster as climate warms

October 9, 2015

The Horn of Africa has become increasingly arid in sync with the global and regional warming of the last century and at a rate unprecedented in the last 2,000 years, according to new research led by a University of Arizona ...

A mission to a metal world—The Psyche mission

October 9, 2015

In their drive to set exploration goals for the future, NASA's Discovery Program put out the call for proposals for their thirteenth Discovery mission in February 2014. After reviewing the 27 initial proposals, a panel of ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.