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Kufs disease gene discovered

Not every patient with dementia suffers from Alzheimer’s disease. A handful of other problems also contribute to the memory loss, mood swings and other cognitive problems that Alzheimer’s patients face. One of those conditions is called Kuf’s disease. Now, a team of Washington University Alzheimer’s researchers have identified a gene mutation that causes Kuf’s disease. The finding should enable doctors to more easily distinguish Kuf’s disease from Alzheimer’s disease. It also may contribute to the development of potential new therapies.

KUFS DISEASE IS A RARE, NEURODEGENERATIGVE ILLNESS THAT STRIKES MIDDLE-AGRED ADULTS, BUT RELATED FORMS ALSO AFFECT CHILDREN AND INFANTS. NOW ANALYZING DNA TAKEN FROM FAMILY MEMBERS WITH KUFS DISEASE, WASHINGTON UNIVERSITY RESEARCHERS HAVE IDENTIFIED A SINGLE GENE THAT CAUSES THE CONDITION. THE FINDING SHOULD LEAD TO A GENETIC TEST FOR THE ILLNESS, AND THE RESEARCHERS SAY IT COULD HAVE IMPLICATIONS FOR THE DIAGNOSIS AND TREATMENT OF OTHER DISEASES, SUCH AS ALZHEIMER’S DISEASE. JIM DRYDEN REPORTS…

DEMENTIA IS A HALLMARK OF KUFS DISEASE, AND IN FACT, THE PEOPLE WHOSE DNA WAS ANALYZED FOR THIS STUDY ORIGINALLY WERE THOUGHT TO HAVE ALZHEIMER’S DISEASE. WASHINGTON UNIVERSITY RESEARCHER CARLOS CRUCHAGA, SAYS ONE MAJOR DIFFERENCE IS THAT IN KUFS DISEASE, FATS BUILD UP IN THE CELLS OF THE BODY.

(act) :09 o/c the cells

When they did biopsy studies, they found that it was not

typical Alzheimer’s disease because they found this lipid

accumulation in the cells.

BUT BECAUSE CRUCHAGA AND HIS COLLEAGUES NOW HAVE IDENTIFIED A GENE THAT CAUSES KUFS DISEASE, IT SHOULD SOON BE POSSIBLE TO CONDUCT A GENETIC TEST, RATHER THAN TO TAKE A BIOPSY TO LOOK FOR ABNORMAL ACCUMULATION OF LIPIDS IN THE CELLS. CRUCHAGA SAYS HIS LABORATORY WAS ABLE TO ISOLATE THE GENE BY ANALYZING DNA FROM THE TWO RELATED KUFS DISEASE PATIENTS. THEY THEN COMPARED THEIR DNA TO GENETIC MATERIAL TAKEN FROM AN UNAFECTED RELATIVE. THEN THEY ALSO LOOKED AT DNA TAKEN FROM HEALTHY CONTROLS, AND THEY WERE EVENTUALLY ABLE TO ISOLATE A SINGLE DNA CHANGE THAT CAUSES KUFS DISEASE.

(act) :12 o/c two families

There next step was to sequence the gene in other families with

the same disease, and we found a different mutation, but in the

same gene, in another two families.

CRUCHAGA SAYS THAT’S WHEN HIS RESEARCH TEMA KNEW THEY’D ISOLATED THE RIGHT GENE. ALL OF THE CHANGES ARE LOCATED ON THE SAME GENE, CALLED DNAJC5. THAT GENE MAKES A PROTEIN IMPORTANT IN TRANSMITTING SIGNALS IN THE BRAIN’S NERVE CELL JUNCTIONS, KNOWN AS SYNAPSES. AND BECAUSE A LOT OF OTHER NEURODEGENERATIVE DISEASES, SUCH AS ALZHEIMER’S DISEASE, ALSO INVOLVE PROBLEMS AT SYNAPSES, THE STUDY’S FIRST AUTHOR, BRUNO BENITEZ, SAYS ISOLATING THIS GENE COULD HAVE IMPLICATIONS MUCH WIDER THAN THE RARE KUFS DISEASE.

(act) :24 o/c in general

The protein apparently has a synaptic function, so what caught

the attention of us is that in other dementia, there is some

sort of synaptic dysfunction. We think that this gene could

be related, or could give us much information, not just about

this disorder but about other dementias in general.

AND CRUCHAGA SAYS NOW THAT HIS LABORATORY HAS IDENTIFIED THE CORRECT GENE, THEY NEED TO FIGURE OUT WHAT THAT GENE IS DOING TO CAUSE PROBLEMS IN SYNAPSES.

(act) :11 o/c for therapies

We know the gene causing the disease. Now we are going to

understand more the biology of the disease, and we can potentially

look for therapies.

CRUCHAGA, BENITEZ AND THEIR COLLEAGUES REPORTED THEIR FINDINGS ON-LINE IN THE JOURNAL PUBLIC LIBRARY OF SCIENCE, ONE. I’M JIM DRYDEN…

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