“I knew from my previous experience in analyzing urine samples from liver disease patients that I can readily detect dolichols by liquid chromatography and mass spectrometry,”
You might not think to look to a urine test to diagnose an eye disease.
But a new Duke University study says it can link what is in a patient’s urine to gene mutations that cause retinitis pigmentosa, or RP, an inherited, degenerative disease that results in severe vision impairment and often blindness. The findings appear online in the Journal of Lipid Research.
“My collaborators, Dr. Rong Wen and Dr. Byron Lam at the Bascom Palmer Eye Institute in Florida first sought my expertise in mass spectrometry to analyze cells cultured from a family in which three out of the four siblings suffer from RP,” said Ziqiang Guan, an associate research professor of biochemistry in the Duke University Medical School and a contributing author of the study.
Guan’s collaborators had previously sequenced the genome of this family and found that the children with RP carry two copies of a mutation at the dehydrodolichol diphosphate synthase (DHDDS) gene, which makes the enzyme that synthesizes organic compounds called dolichols. In humans, dolichol-19, containing 19 isoprene units, is the most abundant species.