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

Breaking news (photo credit: JPOST STAFF)
Breaking news
(photo credit: JPOST STAFF)
A Hebrew University of Jerusalem study that foundwhy Alzheimer's develops more rapidly among people who carry a specificmutated gene - a gene which appears in a fifth of Americans andIsraelis - is arousing much interest among dementia scientists, as itoffers a promising approach to help treat the disease.
Researchersat HU's Silberman Institute of Life Sciences finally solved a mysteryabout 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 bemore protected from the devastating effects of the disease than thosewith a normal gene because the altered protein the normal one producesbreaks down the neurotransmitter acetylcholine at a slower rate than inthose who have the normal version.The result is that the carriersmaintain higher levels of this neurotransmitter, so they shouldtheoretically 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. Thebottom line is that carriers of the mutated gene have a greater riskfor disease progression. The reason for this anomalous situation hasbeen a puzzle for a long time, but the Hebrew University scientistssolved it, thereby offering as well a possible new therapeuticsolution.
The Jerusalem researchers found that the mutation inthe BChE-K gene damages the very end - or tail - of the resultantmutant enzyme protein. This tail is the part of BChE that protectsagainst Alzheimer's amyloid plaques in the brain. It does this byinteracting with the disease's b-amyloid protein and preventing it fromprecipitating and forming those brain plaques that are theneuropathological hallmark of this disease. To compare the normalprotein to the K mutant, the researchers used synthetic tails of thenormal and the K proteins, as well as engineered human BChE produced inthe milk of transgenic goats at a US company, Pharmathene. Thegoat-produced protein is prepared at Pharmathene for the US military asprotection from nerve gas poisoning (a result of earlier research atHU). It was much more stable and efficient than the mutant protein,which suggests that the BChE-K carriers' susceptibility to Alzheimer'scould be substantially improved by treating them with the engineerednormal 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 laureateProf. Roger Kornberg at Stanford University. Podoly was the jointstudent of Prof Oded Livnah and Prof. Hermona Soreq and won a NationalEshkol fellowship in biotechnology to perform this work as well as aKaye Innovation Award at the Hebrew University.
The project is patented and is available for licensing by HU's Yissum Research Development Company.
Terror attacks, missiles, catastrophic accidents in thechemicals industry and natural disasters are all emergencies thatthreaten the population every day. A graduate study program at theUniversity of Haifa's department of geography and environmental studieswill train its graduates to cope with such threats - from formulatingplanning procedures and preventative measures to coping with eventsafter they occur and providing for appropriate rehabilitation.
"Many countries around the world are already placing anemphasis on priming for disaster. Imparting professional knowledge forthose who will be decision makers and who will be required to act inreal 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 fieldwith the help of leading lecturers. It will focus on providingapplicable tools for decision makers, including hazard-evaluationworkshops, and participation in a disaster-management forum. "Theprogram will deal with day-to-day coping skills in the case of anemergency, from appropriate planning, use of technology that canprevent particular disasters and the use of internal and externalregulation tools. Correct action in these areas will make interception,support and rehabilitation much easier and more effective," Blumenfeldadds. The expected students include policy makers and bureaucrats inthe public and private sectors such as emergency economy, home front,police, fire brigade and industry security.
Twelve representatives of the British National Health Service(NHS) came recently to Jerusalem to study TEREM, the private urgentmedical care service, and implement some of its techniques andservices. The physicians and medical administrators were fascinated byTEREM's advanced digital technologies that make it possible for clinicdoctors to consult in real time with colleagues who are not there. Datacan be sent to a patient's family physician's computer or cellularphone. Called Parpar, the software was a finalist in a internationalMicrosoft medical software competition, and will be adopted for use inemergency rooms throughout the UK. Patients will be sent home withintwo hours of their arrival, as in TEREM clinics, thanks to thesoftware.
A two-year-old boy suffering from a rare genetic disorder thatgave him seven fingers on each hand has undergone three hours ofsurgery at Kaplan Medical Center to make him look like any other child.The successful operation carried out in the hand surgery department ofthe Rehovot hospital required general anesthesia. The genetic defecthas existed in the family for six generations, but no member has had asmany as seven fingers on each hand. "We saw in the ultrasound scanbefore his birth that he had 14 fingers, and this was a record in thefamily," said the boy's father.
The complicated surgery required preserving thenecessary soft tissue and the flexibility of the joints so they couldfunction properly as the child grows, as well as attention toesthetics, said Dr. Abraham Hess, the department's director. Themother, who said she was much relieved as her son will be able to belike any of his peers, is pregnant. "If and when we need surgery again,I will not hesitate to return to Kaplan," she said.