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Merrill D. Benson, MD

Professor of Pathology and Laboratory Medicine
Indiana University School of Medicine
Telephone: (317) 278-3428
Laboratory telephone: (317) 278-3440
FAX: (317) 278-3429
email: mdbenson@iupui.edu

Research Interests:

Amyloidosis with particular emphasis on the systemic forms including Immunoglobulin (Primary), Reactive (Secondary) and Hereditary Amyloidosis. Present interests include clinical studies of patients with all forms of amyloidosis, in addition to basic studies in pathology, biochemistry, genetics, and molecular biology. Current research projects include studies on regulation of gene expression, synthesis and metabolism of plasma proteins, and tertiary structure of proteins. Studies of Alzheimer disease include DNA testing and structural characterization of amyloid plaque proteins. These studies have lead to interest in other late-onset neurodegenerative diseases. Transgenic animal models are being used to study pathogenesis of human disease. This is a new area which undoubtedly will lead to new directions in research.

Publications:

1. Ghetti, B., Takao, M., Yazaki, M., Farlow, M.R., Unverzagt, F.W., Piccardo, P., Murrell, J.R., and Benson, M.D.: Neuropathology at the crossroad of neuropsychiatry and genetics: New Insights into neuroserpin encephalopathy. Submitted.

2. Treaba, D.O., Benson, M.D., Assad, L., Dainauskas, J.: Sarcoidosis and Ig lambda II light chain amyloidosis diagnosed after orthotopic heart transplantation: A case report and review of the literature. SEQ CHAPTER \h \r 1; Modern Pathology, in press

3. Hamidi Asl K. Liepnieks JJ. Nunery WR. Yazaki M. Benson MD; Kappa III immunoglobulin light chain origin of localized orbital amyloidosis. Amyloid;11(3):179-83, 2004 Sep.

4. Yazaki M. Liepnieks JJ. Callaghan J. Connolly CE. Benson MD; Chemical characterization of a lambda I amyloid protein isolated from formalin-fixed and paraffin-embedded tissue sections; Amyloid; 11(1):50-5, 2004 Mar.

5. Vidal R. Ghetti B. Takao M. Brefel-Courbon C. Uro-Coste E. Glazier BS. Siani V. Benson MD; Calvas P. Miravalle L. Rascol O. Delisle MB; Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene; Journal of Neuropathology & Experimental Neurology; 63(4):363-80, 2004 Apr.

6. Barouch, F.C., Benson, M.D., Mukai, S.: Isolated vitreoretinal amyloidosis in the absence of transthyretin mutations. Archives of Ophthalmology; 122:123-125, 2004.

7. Haagsma, E.B., Hawkins, P.N., Benson, M.D., Lachmann, H.J., Bybee, A., Hazenberg, B.P.C.: Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British, and American families. SEQ CHAPTER \h \r 1; Amyloid: Journal of Protein Folding Disorders; 11:44-49, 2004.

8. van Rossum, M., van Asten, F.J.A.M., Rofina, J., Lenstra, J.A., Benson, M.D., Gruys, E.: Analysis of cDNA sequences of feline SAAs. Amyloid: Journal of Protein Folding Disorders; 11:38-43, 2004.

9. Connors, L.H., Yamashita, T., Masahide, Y., Skinner, M., Benson, M.D.: A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy. Amyloid: Journal of Protein Folding Disorders; 11:61-66, 2004.

10. Benson MD; The hereditary amyloidoses. Best Practice & Research in Clinical Rheumatology; 17(6):909-27, 2003 Dec.

11. Yamada, T., Okudai, Y., Takasugi, K., Wang, L., Marks, D., Benson, M.D., Kluve-Beckerman, B.: An allele of serum amyloid A1 associated with amyloidosis in both Caucasians and Japanese; Amyloid: Journal of Protein Folding Disorders; 10:7-11, 2003.

12. Magy N. Liepnieks JJ. Yazaki M. Kluve-Beckerman B. Benson MD; Renal transplantation for apolipoprotein AII amyloidosis; Amyloid; 10(4):224-8, 2003 Dec.

13. Yazaki M. Liepnieks JJ. Kincaid JC. Benson MD; Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid. Muscle & Nerve; 28(4):438-42, 2003 Oct.

14. Yazaki M. Liepnieks JJ. Barats MS. Cohen AH. Benson MD; Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. Kidney International; 64(1):11-6, 2003 Jul.

15. Magy N. Liepnieks JJ. Benson MD. Kluve-Beckerman B; Amyloid-enhancing factor mediates amyloid formation on fibroblasts via a nidus/template mechanism. Arthritis & Rheumatism; 48(5):1430-7, 2003 May.

16. Yazaki M. Farrell SA. Benson MD; A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. Kidney International; 63(5):1652-7, 2003 May.

17. Magy N. Liepnieks JJ. Gil H. Kantelip B. Dupond JL. Kluve-Beckerman B. Benson MD; A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. Amyloid; 10(1):29-33, 2003 Mar.

18. Zeldenrust, S., Gertz, M., Uemichi, T., Björnsson, J., Wiesner, R, Schwab, T., and Benson, M.D.: Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 75:560-561, 2003.

19. Blevins, G., Macaulay, R., Harder, S., Fladeland, D., Yamashita, T., Yazaki, M., Hamidi Asl, K., Benson, M.D., and Donat, J.R.: Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology 60:1625-1630, 2003.

20. McKechnie, S., Yang, F., Harper, C.G., McGee-Collett, M., Henderson, C., Liepnieks, J.J., Yazaki, M., Benson, M.D., Masters, C.L., and McLeod, J.G.: Amyloidoma of a spinal root. Neurology; 61:834-836, 2003.

Books and Chapters:

1. Benson, M.D.: Familial Amyloidotic Polyneuropathy. In Peripheral Nerve, 5:41-45, 1994.

2. Benson, M.D.: Amyloidosis. In The Metabolic and Molecular Bases of Inherited Disease, Seventh Edition, Volume III, Chapter 139, Part 18 Connective Tissues, pp. 4159-4191. Ed. by C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, McGraw Hill Book Co., New York, NY, 1995.

3. Hanes, D., Zech, L., Murrell, J.R., and Benson, M.D.: Metabolism of Normal and Met30 Transthyretin. In Advances in Food and Nutrition Research (Chapter 8 - Metabolism of Transthyretin) 40:149-155, 1996.

4. Benson, M.D.: Commentary: Leptomeningeal Amyloid and Variant Transthyretins. Am. J. Pathol. 148:351-354, 1996.

5. Benson, M.D.: Amyloidosis. In Arthritis and Allied Conditions - A Textbook of Rheumatology, 13th Edition, Volume Two, Chapter 86, pp. 1661-1687, 1996. Ed., W.J. Koopman, Williams & Wilkins, A Waverly Company.

6. Benson, M.D.: Editorial: Aging, Amyloid and Cardiomyopathy. New England Journal of Medicine 336:502-504, 1997.

7. Benson, M.D.: Editorial: Apolipoprotein AI and amyloidosis: A genetic model for aging. Kidney International 53:508-509, 1997.

8. Benson, M.D.: Amyloidoses. In “Internal Medicine”, 5th Edition, Chapter 210, pp. 1282-1285. Ed. by J. H. Stein, M.D., Mosby, Inc., St. Louis, MO, 1998.

9. Benson, M.D. (2000). Amyloidosis. In The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition, (C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, and B. Vogelstein, Eds.). Volume IV, Chapter 209, Part 22 Connective Tissue, pp. 5345–5378. McGraw Hill Book Co., New York, NY.

10. Hamilton, J.A. and Benson, M.D.: Transthyretin: A Review from a Structural Perspective. Cellular and Molecular Life Sciences 58:1491-1521, 2001.

11. Benson, M.D.: Amyloidosis. In Arthritis and Allied Conditions - A Textbook of Rheumatology, 14th Edition, Volume Two, Chapter 92, pp. 1866-1895, 2001 Ed., W.J. Koopman, Lippincott, Williams & Wilkins, A Wolters Kluwer Company.

12. Opiszewski, J. and Benson, M.D. (2000). Fibrilles Amyloïdes, Section 4, Fibrillogenèse. In Les Amyloses, pp. 63-107, (G. Grateau, M.D. Benson, and M. Delpech, Eds.). Médecine-Sciences/Flammarion, Paris.

13. Benson, M.D. (2000). Polyneuropathie Amyloïde Familiale, Section 22, Amyloses héréditaires. In Les Amyloses, pp. 445-456, (G. Grateau, M.D. Benson, and M. Delpech, Eds.). Médecine-Sciences/Flammarion, Paris.

14. Uemichi, T. and Benson, M.D. (2000). Amyloses Rénales Héréditaires, Section 22, Amyloses héréditaires. In Les Amyloses, pp. 456-464, (G. Grateau, M.D. Benson, and M. Delpech, Eds.). Médecine-Sciences/Flammarion, Paris.

15. Benson, M.D. (2002). Amyloidosis and other protein deposition diseases. In Emery and Rimoin’s Principles and Practice of MEDICAL GENETICS - Fourth Edition, Volume 2, Chapter 76, pp. 2058-2073, Ed., D L Rimoin, J M Connor, R E Pyeritz, B R Korf, Churchill Livingstone publishers.SEQ CHAPTER \h \r 1

16. Scherer, S.S., Kleopa, K.A., Chance, P.F., Benson, M.D.: Peripheral Neuropathies. In The Molecular and Genetic Basis of Neurologic and Psychiatric Disease, 3rd Edition; Chapter 40, pp. 435-453, 2003. Eds. Rosenberg, R.N., Prusiner, S.B., DiMauro, S., Barchi, R.L., Nestler, E.J.; Butterworth/Heinemann.

17. Benson, M.D.: Amyloidosis. In Arthritis and Allied Conditions - A Textbook of Rheumatology,15th Edition, Volume Two, Chapter 93, 2004. Ed., W.J. Koopman, Williams & Wilkins, A Waverly Company.

18. Benson, M.D.: The hereditary amyloidoses. In Best Practice and Research Clinical Rheumatology, Chapter 2, pp. 909-927, 2003. Ed. Elsevier UK

19. Benson, M.D.: Amyloidosis. In Encyclopedia of Life Sciences, Chapter 2146. Website.

20. Benson, M.D.: The Amyloidoses. Physicians’ Information and Education Resource (PIER) ACP Website 

Dept. of Pathology & Laboratory Medicine Administration Office | Van Nuys Medical Science Building | 635 Barnhill Drive, room A-128 | Indianapolis, IN 46202 Indiana University Health Pathology Laboratory: 350 W. 11th Street, Indianapolis, Indiana 46202