תוצאת חיפוש

Prevalence of APOE 4 Allele in Israeli Ethnic Groups

O. Hilkevich, J. Chapman, B-S. Bone, A.D. Korczyn

Neurology Dept., Tel Aviv Medical Center, and Depts. of Physiology, Pharmacology and Human Genetics, Sackler Faculty of Medicine, Tel Aviv University

The 4 allele of the APOE gene, coding for apo-lipoprotein E, is the most common genetic risk factor for Alzheimer's disease and a significant risk factor for coronary atherosclerosis. There is therefore much interest in studying its frequency in different ethnic groups.

We examined its frequency in Jews originating from Libya, Buchara and Ethiopia and in Jews of Sepharadi and Ashkenazi origins. Its frequency among Ethiopian immigrants was 0.27, significantly higher than in the other groups, in which the frequency was between 0.067 and 0.10. These differences in allele frequency may serve as a basis for future studies in Israel to assess the relative contributions of genetic and environmental factors to the incidence of dementia.

Muir-Torre Syndrome: Importance of Clinical Diagnosis and Genetic Investigation

Hana Strul, Paul Rozen, Tova Naiman, Ruth Shomrat

Gastroenterology Dept. and Genetics Institute, Tel Aviv Medical Center and Tel Aviv University

Muir-Torre syndrome is a relatively rare cutaneous manifestation of hereditary nonpolypous colorectal cancer (HNPCC). This autosomal dominant syndrome is characterized by a combination of sebaceous gland and malignant visceral tumors. The common sites of internal malignancies are the gastrointestinal tract and urinary system. It appears in early adult life and its clinical course is relatively slow.

In some families genetic diagnosis can identify asymptomatic carriers of the mutation. All first-degree relatives, especially mutation carriers, should be referred from the age of 20 years for routine follow-up and early treatment, as it has been proven to decrease morbidity and mortality.

We present a 51-year-old man with Muir-Torre syndrome diagnosed by the presence of multiple adenomas of sebaceous glands, colonic adenoma and adenocarcinoma of the duodenum. The family history was typical for HNPCC. A mutation in the hMSH2 gene on chromosome 2p was found in the patient and in several asymptomatic family members. The aim of this report is to increase awareness of this syndrome and emphasize the importance of referring patients and their families for clinical and genetic counseling and diagnosis.