Navigation Links
Yeast mimics severity of mutations leading to fatal childhood illness

December 22, 2008, Cambridge, UK 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.


Contact: Donna Perry
The Company of Biologists

Page: 1

Related medicine news :

1. Genetic Approach Boosts Yeast Infection Treatment
2. Fish oil and red yeast rice studied for lowering blood cholesterol
3. New research on mutation in yeast can enhance understanding of human diseases
4. Chinese Red Yeast Rice May Prevent Heart Attack
5. Report raises C. diff concerns; yeast-based probiotic shown to help significantly reduce recurrence
6. Yeast gives rise to new concept: cell fuel is brains behind division
7. Penn researchers find potential in yeast for selecting Lou Gehrigs disease drugs
8. Common misdiagnosis: most women believe they have a yeast infection when they dont
9. Virus mimics human protein to hijack cell division machinery
10. Lab on a chip mimics brain chemistry
11. Men Often Not Told of Severity of Wifes Cancer
Post Your Comments:
(Date:12/1/2015)... ... December 01, 2015 , ... According to an article published on ... claim against the U.S. Department of Health and Human Services, claiming that any states ... are breaking the clause in the law prohibiting the denial of coverage for pre-existing ...
(Date:12/1/2015)... , ... December 01, 2015 , ... ... there are professionals who believe that with innovative technologies and under the right ... patient to get the benefit of a dual-approach to his or her therapeutic ...
(Date:12/1/2015)... ... December 01, 2015 , ... It’s official: Tattoo taboo ... — a number even greater among Millennials (a whopping one in three aged 18 ... more people who are dissatisfied with their ink. In fact, RealSelf , the ...
(Date:12/1/2015)... ... December 01, 2015 , ... For the ... is why Hollister Incorporated has launched the VaPro Plus Pocket™ touch free hydrophilic ... the VaPro touch free catheter portfolio,” said Michael Gresavage, Vice President North America. ...
(Date:12/1/2015)... ... December 01, 2015 , ... Lutronic, a leading innovator of aesthetic ... addition to the devices for sale in the United States. Clarity is a ... 1064 nm Nd:YAG lasers, into a single platform that is easy to own and ...
Breaking Medicine News(10 mins):
(Date:12/2/2015)... 2015 TB Alliance and its partners ... medicines in the correct doses. The improved treatments ... set by the World Health Organization (WHO) in ... administer and affordable. The availability of these products ... by UNITAID. ...
(Date:12/1/2015)... and VANCOUVER , Dec. 1, 2015 ... OncoGenex Pharmaceuticals, Inc. (NASDAQ: OGXI ) announced today ... on the pre-planned interim futility analysis of the intent-to-treat ... safety issues were identified by the DMC. Both the ... final results are expected in the second half of ...
(Date:12/1/2015)... 01, 2015 ... the "Spinal Muscular Atrophy Market - ... 2015 - 2023" report to their ... announced the addition of the "Spinal ... Growth, Trends, and Forecast 2015 - 2023" ...
Breaking Medicine Technology: