Jumat, 06 Mei 2011

HEALTH NEWS

Gene Discovery Paves Way For Blood Test For Rare Brain Disorder Kufs Disease

The discovery of the gene responsible for Kufs disease, a rare but fatal inherited brain disorder, has paved the way for developing a blood test to diagnose the condition, rather than through brain biopsy, according to an Australian-led study published online in the American Journal of Human Genetics this week.

The researchers believe the innovative technology they developed for the study could help discover genetic causes of other epilepsy-related diseases, deafness and some inherited cancers
.

Corresponding authors Professor Sam Berkovic, a neurologist and epilepsy
specialist from the University of Melbourne and Dr Melanie Bahlo from the Bioinformatics division of the Walter and Eliza Hall Institute, and colleagues, developed new technology to discover that mutations in the CLN6 gene are the cause of inherited recessive Kufs type A disease. The gene lies on chromosome 15.

Kufs disease is a rare, hereditary and fatal disease that occurs in about 1 in a million people. It belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs) that primarily affect the nervous system and cause problems with movement and intellectual function or cognition. People with the type A form of Kufs disease also have epilepsy and speech difficulties (dysarthria).

The signs and symptoms typically appear in early adulthood, but they can develop anytime between adolescence and late adulthood. They are caused by a build up of toxic fat in the brain and gradually worsen with time. Affected individuals usually survive about 10 years after symptoms first appear.

Genes accounting for most of the NCL disorders that begin in childhood have been identified, but this is the first discovery of a Kufs disease gene.

Berkovic and colleagues hope the discovery will lead to more efficient and less invasive ways of diagnosing Kufs disease earlier.

Diagnosis of Kufs disease is difficult because the characteristic fat deposits are largely present only in neurons or brain cells.

"Currently, the only way that we can reliably diagnose this disease is to do an invasive and dangerous brain biopsy, or at autopsy," Berkovic told the press.

Now we know the gene behind the disease, we will be able to use a rapid and simple blood test to identify it genetically, and this will make it possible to screen for the disease in families that carry the gene, and to offer genetic counselling, which we already know is important for patients, he explained.

He and Bahlo described the discovery of the CLN6 gene as a "great outcome" for the team and the people affected by the disease.

However, Berkovic said the best possible outcome would be if the discovery led to a treatment for Kufs disease, which is currently untreatable and invariably leads to death. However, the possibility of a treatment is "still some time away", he added.

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