Health Scan: HU scientists discover how mutated gene speeds Alzheimer's

Researchers finally solve a mystery about the BChE-K gene.

By
August 8, 2009 21:41
Health Scan: HU scientists discover how mutated gene speeds Alzheimer's

science lab 248.88. (photo credit: Courtesy )

 
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A Hebrew University of Jerusalem study that found why Alzheimer's develops more rapidly among people who carry a specific mutated gene - a gene which appears in a fifth of Americans and Israelis - is arousing much interest among dementia scientists, as it offers a promising approach to help treat the disease. Researchers at HU's Silberman Institute of Life Sciences finally solved a mystery about the BChE-K gene and published their findings in the Journal of Biological Chemistry, which featured it on the cover and selected it as its "Paper of the Week." In theory, the carriers of the mutated gene should actually be more protected from the devastating effects of the disease than those with a normal gene because the altered protein the normal one produces breaks down the neurotransmitter acetylcholine at a slower rate than in those who have the normal version.The result is that the carriers maintain higher levels of this neurotransmitter, so they should theoretically be protected from Alzheimer's, in which acetylcholine levels decrease. Indeed, these carriers tend to develop the disease later than others, but when it does happen, it progresses more rapidly and does not respond to medication. The bottom line is that carriers of the mutated gene have a greater risk for disease progression. The reason for this anomalous situation has been a puzzle for a long time, but the Hebrew University scientists solved it, thereby offering as well a possible new therapeutic solution. The Jerusalem researchers found that the mutation in the BChE-K gene damages the very end - or tail - of the resultant mutant enzyme protein. This tail is the part of BChE that protects against Alzheimer's amyloid plaques in the brain. It does this by interacting with the disease's b-amyloid protein and preventing it from precipitating and forming those brain plaques that are the neuropathological hallmark of this disease. To compare the normal protein to the K mutant, the researchers used synthetic tails of the normal and the K proteins, as well as engineered human BChE produced in the milk of transgenic goats at a US company, Pharmathene. The goat-produced protein is prepared at Pharmathene for the US military as protection from nerve gas poisoning (a result of earlier research at HU). It was much more stable and efficient than the mutant protein, which suggests that the BChE-K carriers' susceptibility to Alzheimer's could be substantially improved by treating them with the engineered normal protein produced in the milk of the transgenic goats. The current study was the last part in the Ph.D. work of Dr. Erez Podoly, now working as a post-doctoral fellow with Nobel laureate Prof. Roger Kornberg at Stanford University. Podoly was the joint student of Prof Oded Livnah and Prof. Hermona Soreq and won a National Eshkol fellowship in biotechnology to perform this work as well as a Kaye Innovation Award at the Hebrew University. The project is patented and is available for licensing by HU's Yissum Research Development Company. PREPARING FOR EMERGENCIES Terror attacks, missiles, catastrophic accidents in the chemicals industry and natural disasters are all emergencies that threaten the population every day. A graduate study program at the University of Haifa's department of geography and environmental studies will train its graduates to cope with such threats - from formulating planning procedures and preventative measures to coping with events after they occur and providing for appropriate rehabilitation. "Many countries around the world are already placing an emphasis on priming for disaster. Imparting professional knowledge for those who will be decision makers and who will be required to act in real time will make Israel better able to manage such events," says Dr. Sigal Blumenfeld, who is coordinating the program. The new program will provide a comprehensive view of the field with the help of leading lecturers. It will focus on providing applicable tools for decision makers, including hazard-evaluation workshops, and participation in a disaster-management forum. "The program will deal with day-to-day coping skills in the case of an emergency, from appropriate planning, use of technology that can prevent particular disasters and the use of internal and external regulation tools. Correct action in these areas will make interception, support and rehabilitation much easier and more effective," Blumenfeld adds. The expected students include policy makers and bureaucrats in the public and private sectors such as emergency economy, home front, police, fire brigade and industry security. NHS LEARNS FROM TEREM Twelve representatives of the British National Health Service (NHS) came recently to Jerusalem to study TEREM, the private urgent medical care service, and implement some of its techniques and services. The physicians and medical administrators were fascinated by TEREM's advanced digital technologies that make it possible for clinic doctors to consult in real time with colleagues who are not there. Data can be sent to a patient's family physician's computer or cellular phone. Called Parpar, the software was a finalist in a international Microsoft medical software competition, and will be adopted for use in emergency rooms throughout the UK. Patients will be sent home within two hours of their arrival, as in TEREM clinics, thanks to the software. FOUR FINGERS TOO MANY A two-year-old boy suffering from a rare genetic disorder that gave him seven fingers on each hand has undergone three hours of surgery at Kaplan Medical Center to make him look like any other child. The successful operation carried out in the hand surgery department of the Rehovot hospital required general anesthesia. The genetic defect has existed in the family for six generations, but no member has had as many as seven fingers on each hand. "We saw in the ultrasound scan before his birth that he had 14 fingers, and this was a record in the family," said the boy's father. The complicated surgery required preserving the necessary soft tissue and the flexibility of the joints so they could function properly as the child grows, as well as attention to esthetics, said Dr. Abraham Hess, the department's director. The mother, who said she was much relieved as her son will be able to be like any of his peers, is pregnant. "If and when we need surgery again, I will not hesitate to return to Kaplan," she said.

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