Overview

Dr. Cedric Shackleton is a Senior Scientist at CHORI as well as being a Professor (Honorary) at the Department of Medical Sciences, University of Birmingham, England. He has worked at CHORI for over 20 years.

Since 1967, Dr. Shackleton has been an innovator in the use of mass spectrometetry for biochemical analysis. For most of this period his new studies have involved steroid metabolism, but in 1991 he was a pioneer in the use of new technique electrospray mass spectrometry for protein analysis. For several years his group acted as a resource within the Sickle Cell Center for characterization of variant hemoglobins. The central theme of his studies has been the utilization of the technique for clinical analysis.

Recently, Shackleton has used mass spectrometry to characterize the steroids present in the urine of women carrying fetuses with Smith-Lemli-Opitz syndrome, an inherited deficiency in 7-dehydrocholesterol 7-reductase, an important enzyme in cholesterol synthesis. This is a severe condition associated with physical malformation and mental retardation. Until now, prenatal diagnosis has depended on sampling from the fetus through amniocentesis, a procedure with some risk. Using mass spectrometry -- a safer and much less invasive technology -- Shackleton is able to detect abnormal steroids in maternal urine that are signs of this syndrome. He has found that another condition, steroid sulfatase deficiency, can also be detected by mass spectrometric analysis of the steroids in maternal urine during pregnancy, providing a differential diagnosis in response to the finding of low maternal estriol in mid-pregnancy.

Shackleton has also pioneered the use of mass spectrometry in providing a detailed analysis of the steroid production in hypertensive individuals, and operates an internationally used resource for diagnosis of rare forms of inherited hypertension.

In addition, Shackleton has worked with the U.S. and International Olympic Committees to help establish procedures for synthetic steroid detection. By analysis of the carbon isotope ratio, mass spectrometry can show that the steroids found in an athlete’s urine come from an external source, thus proving steroid misuse. He contributed to the methods used in all recent Olympic games.