Chunli Yu, MD
- ASSOCIATE PROFESSOR | Genetics and Genomic Sciences
BS, Peking University
MD, Peking Union Medical College
Postdoctoral fellow, Yale University
Resident, Peking Union Hospital
Laboratory diagnosis and monitoring of inborn errors of metabolism (IEM):
· Metabolic disorders of amino acids, organic acids and fatty acids
· Lysosomal storage disorders (LSD)
Biochemial Genetic laboratory performs comprehensive NBS confirmatory testing, including amino acids, organic acids and carnitine/acylcarnitine profiles. We also provide monitoring testing service on methylmalonic acid, orotic acid, succinylacetone and a panel of 6 amino acids in plasma and DBS samples for monitoring PKU and MSUD patients. Ourcurrent lysosomal enzyme testing (Tay-Sachs, Fabry, Gaucher, Sandhoff) and Gaucher biomarker-Chitotriosidase activity supports the Lysosomal Storage Disorders program in our department. For Tay Sachs disease, we provide comprehensive molecular and enzymatic prenatal testing for the at risk families. New 9-plexed lysosomal enzyme assay (Gaucher, Fabry, Krabbe, Nimann-Pick, Pompe, MPS I, II, IV and VI) using LC-MS/MS are coming soon to expand our LSD panel. We have developed and validated a sensitive, specific urine and plasma 5-aminolevulinic acid and porphobilinogen assay using LC-MS/MS for the diagnosis and monitoring of acute porphyria awaiting NYS approval.
Pharmocogenetics (metabolites profile):
Recently we have been approved by NYS to provide Tamoxifen metabolites analysis for ER positive breast cancer patients on Tamoxifen treatment. This assay in conjunction with CYP2D6 genotype allows the personalized treatment for breast cancer.
Kim JK, Fillmore JJ, Chen Y, Yu C, Moore IK, Pypaert M, Lutz EP, Kako Y, Velez-Carrasco W, Goldberg IJ, Breslow JL, Shulman GI. Tissue-specific overexpression of lipoprotein lipase causes tissue-specific insulin resistance. Proc Natl Acad Sci U S A 2001 Jun 19; 98(13): 7522-7527.
Neschen S, Moore I, Regittnig W, Yu CL, Wang Y, Pypaert M, Petersen KF, Shulman GI. Contrasting effects of fish oil and safflower oil on hepatic peroxisomal and tissue lipid content. Am J Physiol Endocrinol Metab 2002 Feb; 282(2): E395-E401.
Yu C, Chen Y, Cline GW, Zhang D, Zong H, Wang Y, Bergeron R, Kim JK, Cushman SW, Cooney GJ, Atcheson B, White MF, Kraegen EW, Shulman GI. Mechanism by which fatty acids inhibit insulin activation of insulin receptor substrate-1 (IRS-1)-associated phosphatidylinositol 3-kinase activity in muscle. J Biol Chem 2002 Dec 27; 277(52): 50230-50236.
Coffee B, Hjelm LN, DeLorenzo A, Courtney EM, Yu C, Muralidharan K. Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene. Genet Med 2006 Oct; 8(10): 635-640.
Gregory CO, Yu C, Singh RH. Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med 2007 Nov; 9(11): 761-765.
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Molecular genetics and metabolism 2010 Feb; 99(2): 116-123.
Jaremko M, Kasai Y, Barginear MF, Raptis G, Desnick RJ, Yu C. Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. Analytical chemistry 2010 Dec; 82(24): 10186-10193.
Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. Journal of inherited metabolic disease 2011 Feb; 34(1): 225-231.
Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2011 Aug; 879(24): 2389-2396.
Barginear MF, Jaremko M, Peter I, Yu C, Kasai Y, Kemeny M, Raptis G, Desnick RJ. Increasing Tamoxifen Dose in Breast Cancer Patients Based on CYP2D6 Genotypes and Endoxifen Levels: Effect on Active Metabolite Isomers and the Antiestrogenic Activity Score. Clinical pharmacology and therapeutics 2011 Oct; 90(4): 605-611.