A genetic basis was found among 30% of Ashkenazi men who had breast cancer, in another study it was found that 25% of Ashkenazi Parkinson's patients are carriers of the gene that causes Gaucher disease
Avi Blizovsky
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Researchers from the Rappaport Faculty of Medicine at the Technion and the Genetics Institute at the Rambam Medical Center found a genetic basis for cancer and Parkinson's disease among Ashkenazi patients in two separate studies. One study found a genetic basis among 30% of Ashkenazi men who had breast cancer, and another study revealed that 25% of Ashkenazi Parkinson's patients are carriers of the gene that causes Gaucher's disease. Until now it was common to think that Parkinson's disease is not genetic but accidental.
"One out of every 1000 men may develop breast cancer," says Professor Ruth Gershoni, from the Technion Faculty of Medicine and Director of the Rambam Genetics Institute, who supervised master's student Rina Charney in her research on men who had breast cancer. "In the mid-90s, two genes were identified that cause breast cancer, both in men and in women. 3% of Ashkenazi patients, men and women, carry these genes. Among 30% of the men who got breast cancer, we found a genetic basis for this, that is - in a man who gets breast cancer, there is a greater chance that it is genetic, but the awareness among men of the need for breast examination - is much lower than that of women."
Professor Rina Charney says that in Israel every year about forty men are diagnosed with breast cancer, 15 of whom die from the disease. Most cases are diagnosed between the ages of 61-69. A family history of cancer was diagnosed among 20% of them. Following the results of the study, the researchers recommend that men in whose family there have been cases of breast and ovarian cancer, undergo genetic testing, a routine test will be conducted for men at risk, and men will also be invited for oncological scans of the chest.
In another study, conducted by Professor Gershoni and Dr. Yehudit Peretz-Aharon, from the Faculty of Medicine at the Technion and director of the Cognitive Unit at Rambam, it was found that about a quarter of Ashkenazi Parkinson's patients carry the gene responsible for Gaucher's disease. The discovery was recently published in the prestigious scientific newspaper "New England Journal of Medicine".
"Parkinson's disease is a neurodegenerative disease," explains Professor Gershoni. "During which cells in the brain are destroyed, mainly dopaminergic cells. The disease affects approximately one percent of the elderly and until recently was considered a sporadic, non-genetic disease of old age. In the last ten years, the evidence is growing that Parkinson's also has genetic causes and the tendency to develop Parkinson's is actually a consequence of a genetic failure. Indeed, genes that cause the disease have been found in some families. They also have a genetic defect in synuclein, which is a protein that plays an important role in regulating dopamine, which prevents Parkinson's. The most common genetic defect among Parkinson's patients is found in a gene called Parkin, which is the "glue" that attaches ubiquitin to a protein destined for degradation."
The Technion researchers examined more than a hundred Ashkenazi Parkinson's patients and found that about a quarter of them carry the gene that causes Gaucher's disease. "They are carriers of the gene, but do not suffer from Goshe", explains Professor Gershoni. "Not everyone will develop Parkinson's over time, but only 5% of them."
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