Endocrinology, Metabolism and Clinical Nutrition

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Shailendra Patel, MD, PhDShailendra Patel, MD, PhD

Professor of Medicine, Department of Medicine
Division of Endocrinology, Metabolism, and Clinical Nutrition
Director of Clinical, Research and Educational efforts for the Division


Dr. Shailesh B. Patel is a Professor of Medicine at the Medical College of Wisconsin, Division of Endocrinology, Metabolism and Clinical Nutrition, Milwaukee, WI.  Dr. Patel attended Oxford University, UK for his undergraduate (BA Physiological Sciences), medical (BM, ChB) and post-graduate training (DPhil). He completed internship in Medicine at Torbay General Hospital, Torquay, England, and in Neurosurgery at Western General Hospital, Edinburgh, Scotland, a residency at the Freeman and Newcastle General Hospitals, England, postgraduate training in Metabolic and Molecular Medicine (Endocrinology) at Northwick Park Hospital, London, as well as completing a fellowship in Endocrinology at UT Southwestern Medical School, Dallas, TX. Dr. Patel is board certified in Internal Medicine and Endocrinology. He is an elected fellow of both the Royal College of Medicine and of the American Society for Clinical Investigation. He is a member of the American Diabetes Association, the Endocrine Society and the American Society of Human Genetics. Dr. Patel has authored more than 50 scientific papers in peer-reviewed journals in topics ranging from genetics of lipid disorders and obesity, to lipoprotein research and molecular biology. His current research involves the role of cholesterol in embryonic development, the role of ABCG5 and ABCG8 in cholesterol and xenosterol protection in humans and animal models and the study of rare sterol genetic disorders.

Dr. Patel was elected recently as Fellow of the National Lipid Association in 2011 and Fellow of the American College of Physicians in 2013. He was also elected as President of the American Diabetes Association-Wisconsin Chapter for 2013.

Care Emphasis:
  • Cholesterol/Lipid Disorders
  • Diabetes Type 1 & 2
  • Insulin Pump Management
  • Endocrine Disorders
  • Transgender Endocrinology
  • Thyroid Disorders
  • Genetic Disorders of Metabolism
  • Metabolic Disorders
  • Cardiovascular Risk Factor Management
Joined Medical College of Wisconsin:
  • 2005
  • Doctor of Medicine - Oxford University - , United Kingdom (1985)
  • Fellowship in Metabolic and Molecular Medicine - Royal College of Physicians - London, United Kingdom (1992-1993)
  • Fellowship in Endocrinology - University of Texas Southwestern Medical School - Dallas (1995-1997)
  • Internship in House Surgeon-Department of Neurosurgery - Western General Hospital - Edinburgh, Scotland (1985-1986)
  • Internship in Internal Medicine-House Physician - Torbay Hospital - Torquay, UK (1986)
  • Residency in Internal Medicine - Freeman and Newcastle General Hospitals - Newcastle upon Tyne, UK (1986-1988)
  • Fellowship in Endocrinology and Internal Medicine - Northwick Park Hospital - Harrow, En, UK (1989-1992)
Board Certifications:
  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • English
  • Hindi
  • Gujarati
Investigative Interests:
  • Genetics
  • Physiology and Pathophysiology of Cholesterol Disorders
  • Embryonic Development

The major interests are focused around rare human disorders of sterol metabolism and how these allow us greater insight into normal processes. My laboratory is currently studying the pathophysiology of the Smith-Lemli-Opitz syndrome (role of cholesterol in embryonic development) and Sitosterolemia (how our bodies regulate dietary sterols, including cholesterol). This research is funded by the National Institutes of Health. The current work relates to genetic investigations in humans, as well as developing and studying animal models of these rare diseases to better understand the pathophysiology.

Selected Publications:
1.   Patel, S. B. and Cook, P.R. The DNA-protein cross: a method for detecting specific DNA-protein
      complexes in crude mixtures. EMBO J. (l983) 2:l37-l42.

2.   Jackson, D.A., Cook, P.R. and Patel, S. B. Attachment of repeated sequences to the nuclear cage.
Nucleic Acids Res. (l984) l2:6709-6726.

3.   Li, Xiaohua, Catalina, F, Grundy, S. M. and Patel S. B. A Method to measure ApoB 48 and B100 in an Individual Mouse; Evidence for a very rapid turnover of VLDL and Preferential removal of B48 relative to B100. J. Lipid Res. (1996) 37: 210-220.

4.   Nemeth, A., Talmud, P., Grundy, S. M. and Patel, S. B. Activation of a cryptic splice-site in intron 24 leads to the formation of apolipoprotein B27.6. Atherosclerosis. (1997) 133:167-170

5.   Patel, S. B., Salen, G., Hidaka, H., Kwiterovich, P.O., Stalenhoef, A.H.F., Miettinen, T., Grundy, S.M., Lee, M-H, Rubenstein, J.S., Polymeropoulos, M. and Michael J. Brownstein. Mapping a gene involved in regulating dietary cholesterol absorption; the sitosterolemia locus is found at chromosome 2p21. J. Clin. Invest. (1998) 102: 1041-1044

6.   Wu, J., Zhu, Y., and Patel, S. B. Cyclosporin-induced dyslipidemia is associated with selective activation of SREBP-2 (1999) Am. J. Physiol: Endocrinol and Metab. 277: E1087-1094

7.   Garg. A., Wilson, R., Barnes, R., Arioglu, E., Zaidi, Z., Gurakan, F., Kocak, N., O'rahilly, S., Taylor, S.I., Patel, S.B. and Bowcock, A.M. A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34, J. Clin. Endocrinol. Metab. (1999) 84: 3390-94

8.   Yu, H., Lee, M-H., Irons, M., Elias, E., Salen, G., Patel, S. B, and Tint, G.S. Spectrum of D7-dehydrocholesterol reductase gene mutation in patients with Smith-Lemli-Opitz syndrome. Hum Mol. Genet. (2000) 9: 1385-1391.

9.   Lee, M-H, Yi, S-Y., Hazard, S., Carpten, J.D., Gerhardt, G.T., Cohen J., Salen, G., and Patel, S. B. Fine mapping, mutational analyses and structural mapping of cerebrotendinous xanthomatosis in US pedigrees J. Lipid Res. (2001) 42: 1-12

10. Lu, K., Lee, M-H., Carpten J. D., Sekhon, M. and Patel, S. B. High-Resolution Physical and Transcript Map of Human Chromosome 2p21 Containing the Sitosterolemia Locus. E. J. Hum. Genet. (2001) 12: 364-374

11. Lee, M-H., Lu, K., Shulenin, S., Hidaka, H., Kojima, H., Sakuma, N., Pegoraro, R., Srivastava, A., Salen, G., Dean, M. and Patel, S. B. Identification of a gene important in the regulation of dietary cholesterol absorption. Nat. Gen. (2001) 27:79-83 2001.

12. Lu, K., Lee, M-H., Hazard, S., Brooks-Wilson, A., Hidaka, H., Kojima, H., Ose, L., Stalenhoef, A. F. H., Mietinnen, T., Bjorkhem, I., Bruckert, E., Pandya, A., Brewer, Jr., H. B., Salen, G., Dean, M., Srivastava, A. and Patel, S. B. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2 encoded by ABCG5 and ABCG8 respectively. Am. J. Hum. Genet. (2001) 69: 278-290.

13. Moebius, F., Fitzky, B., Xu, G., Waage, H., Asaoka, H., Maeda, N., Kluckman, K., Hiller, S., Yu, H., Batta, Ak. K., Shefer, S., Chen, T., Salen, S., Sulik, K., Ness, G. C., Glossmann, H., Patel, S. B. and G.S. Tint. Aberrant Sterol Metabolism in Mice with a Targeted Disruption of dhcr7; A Model for the Smith-Lemli-Opitz Syndrome. J. Clin. Invest. (2001) 108: 905-925.

14. Yu, H., Pandit, B., Klett, E.L., Lee, M.-H., Lu, K., Helou, K., Ikeda, I., Egashira, N., Sato, M., Klein, R.L., Batta, A., Salen, G. and Patel, S.B. The rat STSL locus: characterization, chromosomal assignment, and genetic variations in sitosterolemic hypertensive rats. BMC Cardiovascular Disorders (2003) 3:4-

15. Gupta RP, Hollis BW, Patel S.B, Patrick KS, Bell NH. CYP3A4 is a Human Microsomal Vitamin D 25-Hydroxylase. J. Bone Miner. Res. (2004) 19:680-688

16. Klett EL, Lu K, Kosters A, Vink E, Lee MH, Altenburg M, Shefer S, Batta AK, Yu H, Chen J, Klein R, Looije N, Oude-Elferink R, Groen AK, Maeda N, Salen G, Patel S.B. A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. BMC Med (2004) 2:5.

17. Gordon D, Haynes C, Johnnidis C, Patel S.B., Bowcock AM, Ott J. A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents. Eur J Hum Genet. (2004) 12:752-61.

18. Kosters A, Frijters RJ, Kunne C, Vink E, Schneiders MS, Schaap FG, Nibbering CP, Patel SB, Groen AK (2004) Diosgenin-induced biliary cholesterol secretion in mice requires Abcg8. Hepatology 41:141-150.

19. Yu, H., Wessels, A., Tint, G.S. and Patel S.B. (2005) Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. Dev. Brain. Res. 156(1):46-60

20.   Solca C, Stanga Z, Pandit B, Diem P, Greeve J, Patel S. Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. Clin Genet. 2005 68:174-8.

21. Chen J, Batta A, Zheng S, Fitzgibbon WR, Ullian ME, Yu H, Tso P, Salen G, Patel SB. The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. BMC Genet. 2005 6:40.

22. Miettinen, T.A., Klett, E.L., Gylling, H., Isoniemi, H. and Patel, S.B. Liver transplantation in a patient with sitosterolemia and liver cirrhosis. Gastroenterology 2006 130:542-547

23. Hazard, S. and Patel, S.B. Sterolins ABCG5 and ABCG8: Regulators of whole body dietary sterols. Pflugers Archives-Eur. J. of Physiol. 2006 27; 1-8.

24. Pandit, B., Ahn, G.-S., Hazard, S.E., Gordon, D. and Patel, S. B. A detailed Hapmap of the STSL locus spanning 69kb; Differences between Caucasians and African-Americans. BMC Med Gen 2006 7;13

25. Solca C, Pandit B, Yu H, Tint GS, Patel S. B. Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. Mol Genet Metab. 2007 91:7-14.

26. Yu H., Li M., Tint G. S., Chen J., Xu G., Patel S. B. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. BMC Dev Biol. 2007 4;7:27.

27. Yu H., Wakim B., Li M., Halligan B., Tint G.S., Patel S.B. Quantifying raft proteins in neonatal mouse brain by 'tube-gel' protein digestion label-free shotgun proteomics. Proteome Sci. 2007 5:17.

28. Kidambi S. and Patel S.B. Cholesterol and non-cholesterol sterol transporters: ABCG5, ABCG8 and NPC1L1: a review. Xenobiotica, 38:7, 1119—1139.

29. Kidambi S. and Patel S.B. Diabetes Mellitus: Considerations for Dentistry. J. Am. Dent. Assoc. 2008;139;8S-18S.

30. Kidambi S. and Patel S.B. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis.  J. Clin. Pathol. 2008;61;588-594.

31. Patel, S.B. Point: Statins, plant sterol absorption, and increased coronary risk. Journal of Clinical Lipidology, 2008:2:304-308.

32. Yu H., Wakim B., Li M., Halligan B, Tint G.S., Patel S.B. Quantifying raft proteins in neonatal mouse brain by 'tube-gel' protein digestion label-free shotgun proteomics. Proteome Science 2007, 5:17.

33. Patel, S.B. Plant sterols and stanols: Their role in health and disease. Journal of Clinical Lipidology 2008: 2, S11–S19.

34. Yu H., Li M., Tint G.S., Chen J., Xu G., Patel S.B. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. BMC Developmental Biology 2007, 7:27.

35. Alcalay, R., Wu, S., Patel, S.B., and Frucht, S. Oromandibular Dystonia as a complication of Cerebrotendinous Xanthomatosis. Movement Disord 2009 24(9): 1397-9.

36. Matabosch, X., Rahman, M., Hughes, B., Patel, S.B., Watson, G., Shackleton, C. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. J Steroid Biochem Mol Biol. 2009 Aug;116(1-2):61-70.

37. Kinetics of insulin secretion to acute, repetitive stimulation of islets in vivo in Sprague Dawley rats. Chen J., Nittala, A., Gao, S., Ghosh, S., Want X., and Patel, S.B. (2010) Islets 2:1 10-17.

38.  Patel, S.B. and R. D. Steiner. In Memoriam: William E. Connor (1921-2009). J Lipid Res 2010. 51: p. 679.

39.  Patel, S.B. Location, location, location...again. J Lipid Res 2011. 52(3): p. 417-418.

40.  Kidambi, S., Ghosh, S., Kotchen, J.M., Grim, C.E., Krishnaswami, S., Kaldunski, M.L., Cowley Jr., A.W., Patel, S.B. and Kotchen, T.A.  
Non-Replication study of a GWAS for hypertension and blood pressure in African Americans. BMC Genetics 2012 13:27.

41.  Solca C., Tint G.S., Patel S.B. Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient mice. J Lipid Res. 2013. 54: 397-409.


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