J. Edwin Seegmiller

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Jarvis "Jay" Edwin Seegmiller (born June 22, 1920 in St. George , Utah , † May 31, 2006 in La Jolla , California ) was an American biochemist , geneticist and gerontologist . He was able to elucidate the causes of a number of congenital metabolic disorders , in particular he discovered the enzyme defect that is the basis of Lesch-Nyhan syndrome .

Life

Seegmiller was the youngest of nine children and the only son of Edwin Dee and Eleanor Woodbury Jarvis Seegmiller, a Mormon farming family from St. George, Utah. Henry Eyring , a family friend, introduced J. Edwin Seegmiller to science. At Dixie College acquired Seegmiller 1940 as valedictorian and a first degree in 1942 at the University of Utah in Salt Lake City a Bachelor in chemistry . The outbreak of World War II prevented him from studying chemistry at Princeton University or Pennsylvania State University , where he had been admitted to postgraduate studies .

Seegmiller completed part of his military service in a research project of the National Institutes of Health (NIH), where he was concerned with the (bio) chemical causes of diseases. After the war, Seegmiller studied medicine at the University of Chicago and earned an MD as an assistant doctor in 1948. He first worked at the Johns Hopkins Hospital in Baltimore , Maryland , before joining Bernard Horecker at the National Institute of Arthritis and Metabolic Disease (NIAMD), today National Institute of Arthritis and Musculoskeletal and Skin Diseases , an NIH facility in Bethesda , Maryland. After research stays at the Thorndike Memorial Laboratory at Harvard Medical School in Boston (1952) and the Public Health Research Institute in New York City (1953), Seegmiller returned to NIAMD in 1954. Here - after a year-long research stay in London - he became Deputy Scientific Director in 1960 and, in 1966, head of the Department of Human Biochemical Genetics ("human biochemical genetics").

In 1969 he became professor of internal medicine and head of the department of arthritis at the newly established medical school of the University of California, San Diego (UCSD). In 1982 Seegmiller went to the Swiss Institute for Experimental Cancer Research in Lausanne as a Guggenheim Fellow . In 1983 he was the founding director of the UCSD gerontological research institute, now the Stein Institute for Research on Aging . In 1990 he retired as director, but was still scientifically active until shortly before his death and held the position of deputy director.

He was married to Roberta Mae Eads († 1992) since 1950 and the couple had four children. In his second marriage, he was married to Barbara Ellertson since 1995.

Act

Seegmiller was one of the first medical researchers to study congenital metabolic disorders . He is considered a pioneer in the use of fibroblasts in cell culture as an in vitro model for metabolic diseases. Using isotope labeling , he made important discoveries about disorders of the purine and amino acid metabolism . His work was fundamental to understanding gout and gout arthropathy .

In 1967 Seegmiller discovered the enzyme defect (almost complete lack of hypoxanthine-guanine phosphoribosyl transferase , HPRT) that underlies Lesch-Nyhan syndrome , a neurological disease characterized by mental retardation, behavioral disorders and increased production of uric acid . If the HPRT enzyme affected by a mutation still shows a residual activity of at least 8%, the result is not the Lesch-Nyhan syndrome, but the Kelley-Seegmiller syndrome named after Seegmiller and William N. Kelley , which is not caused by neurological symptoms, it is only characterized by the symptoms of excessive uric acid production: kidney stones , uric acid nephropathy (see hyperuricemia ) and hydronephrosis (urine build-up), and after puberty also gout .

Other important works dealt with the causes of cystinosis , alkaptonuria or pseudogout . Seegmiller was involved in an expedition to Vilcabamba in Ecuador , which investigated the causes of the (supposed) longevity there . Later work was fundamental to the development of the theory of free radicals as the cause of aging .

Seegmiller was the author of more than 350 scientific publications .

Awards (selection)

literature

Web links

Individual evidence

  1. ↑ Kelley-Seegmiller syndrome at whonamedit.com; Retrieved January 17, 2014
  2. ↑ Kelley-Seegmiller syndrome.  In: Online Mendelian Inheritance in Man . (English)
  3. ^ J. Edwin Seegmiller. In: gairdner.org. Retrieved April 16, 2018 .
  4. ^ J. Edwin Seegmiller at the National Academy of Sciences (nasonline.org); Retrieved January 17, 2014
  5. ↑ Book of Members 1780 – present, Chapter S. (PDF; 1.4 MB) In: American Academy of Arts and Sciences (amacad.org). Retrieved April 16, 2018 .
personal data
SURNAME Seegmiller, J. Edwin
ALTERNATIVE NAMES Seegmiller, Jarvis Edwin (full name); Seegmiller, Jay Edwin (nickname)
BRIEF DESCRIPTION American biochemist, geneticist, and gerontologist
DATE OF BIRTH June 22, 1920
PLACE OF BIRTH St. George , Utah
DATE OF DEATH May 31, 2006
Place of death La Jolla , California