Gene discovery may aid Marfan's diagnosis.Three groups of geneticists have identified the gene for Marfan's syndrome, a potentially fatal disorder thought to have afflicted Abraham Lincoln. The discovery should lead to a diagnostic test for the defect, which affects one in every 10,000 people worldwide. At present, physicians can detect Marfan's syndrome only in people with the most extreme form of the disease. Such patients are unusually tall and loose-jointed, have long, spider-like fingers, and may suffer from dislocated dis·lo·cate tr.v. dis·lo·cat·ed, dis·lo·cat·ing, dis·lo·cates 1. To put out of usual or proper place, position, or relationship. 2. eye lenses. Less striking forms of Marfan's may go undiagnosed until the major blood vessel leading from the victim's heart bursts during strenuous physical activity, causing sudden death. As early as the 1950s, physicians surmised that Marfan's was a genetic disease involving connective tissue because it affects bones, tendons and the cartilage that shores up major blood vessels. Last year, a group led by the late David W. Hollister at the University of Nebraska Medical Center In 1991, a technology transfer office was created known as UNeMed. In 1997, the UNMC hospital merged with the nearby hospital operated by Clarkson College to become what was later renamed The Nebraska Medical Center. in Omaha attributed Marfan's to a defect in fibrillin, the protein that provides the structural scaffolding between cells (SN: 8/4/90, p.79.) In the July 25 NATURE, U.S., Japanese and French members of Hollister's original team report that they have linked Marfan's syndrome to a fibrillin gene on chromosome 15. The researchers, led by Francesco Ramirez of the Mount Sinai School of Medicine
Mount Sinai School of Medicine is a medical school found in the borough of Manhattan in New York City. in New York City New York City: see New York, city. New York City City (pop., 2000: 8,008,278), southeastern New York, at the mouth of the Hudson River. The largest city in the U.S. , also report finding a gene on chromosome 5 that codes for a different version of fibrillin, which may cause a related disorder of the fingers called congenital contractural arachnodactyly. In the same issue of NATURE, two other papers further characterize chromosome 15's fibrillin gene. At Shriners Hospital for Crippled Children in Portland, Ore., Lynn Y. Sakai and her co-workers deciphered 70 percent of the DNA sequences that make up the gene. Sakai, now at Duke University in Durham, N.C., and another group led by Harry C. Dietz at Johns Hopkins University Johns Hopkins University, mainly at Baltimore, Md. Johns Hopkins in 1867 had a group of his associates incorporated as the trustees of a university and a hospital, endowing each with $3.5 million. Daniel C. in Baltimore, also describe mutations in the fibrillin genes of two people who developed Marfan's spontaneously without inheriting defective genes. These discoveries "should permit the design of definitive diagnostic tests [for Marfan's]," writes Johns Hopkins geneticist ge·net·i·cist n. A specialist in genetics. geneticist a specialist in genetics. geneticist Victor A. McKusick Victor Almon McKusick (born October 21, 1921), internist and medical geneticist, is University Professor of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital, Baltimore, MD, USA. in an accompanying editorial. He says the findings should also aid a project analyzing Lincoln's remains to determine whether the President suffered from the disease (SN: 5/25/91, p.335). |
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