Louis M Kunkel PhD

Center Associate Director; Professor of Pediatrics, Harvard Medical School; Director, Multimedia, Molecular Genetics and Cell Sorter Cores

Children's Hospital Intellectual and Developmental Disabilities Research Center
Harvard Medical School
300 Longwood Avenue
Boston, MA 02115
617-355-6729 (tel)
617-730-0241 (fax)

Biography/Curriculum Vitae:

Research Interests:
Genetics; neuromuscular disease

Narrative of Current Research Efforts:

The Kunkel laboratory has had a longstanding interest in understanding the molecular and biochemical basis of common neuromuscular diseases and in the design of rational therapies for these diseases.  The major focus has been on the muscular dystrophies, which are a heterogeneous group of genetic disorders. The most common form of muscular dystrophy is caused by abnormalities in the dystrophin protein, identified more than 18 years ago in this laboratory. Dystrophin has been shown to be part of a larger complex of muscle cell proteins, and many of these proteins are themselves altered to cause autosomal recessive and autosomal dominant forms of muscular dystrophy. The major aim of the laboratory is to understand the mechanism by which alteration in many different proteins results in a common mode of pathogenesis and then to use this mechanistic understanding to design rational therapies.

Major Honors and Awards:

Representative Publications:

Thompson, T. G., Chan, Y. M., Hack, A. A., Brosius, M., Rajala, M., Lidov, H. G. W., McNally, E. M., Watkins, S. and Kunkel, L. M., 2000. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 148, 115-126.

Thompson, T. G. and Kunkel, L. M., 2000. Advances in muscular dystrophy: Exciting new prospects for the millenium. Neuroscience News. 3, 4-12.

Growney, J. D., Scharf, J. M., Kunkel, L. M. and Dietrich, W. E., 2000. Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics. 64, 62-81.

Takano, a., Bonnemann, C. G., Honda, H., Sakai , M., Feener, C. A., Kunkel, L. M. and Sobue, G., 2000. Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. Muscle Nerve. 23, 807-810.

Perls, T., Shea-Drinkwater, M., Bowen-Flynn, J., Kang, S., Joyce, E., Daly, M., Brewster, S., Kunkel, L. M. and Puca, A., 2000. Exceptional familial clustering for extreme longevity in humans. J Am Geriartic Soc. 48, 1483-1485.

Rocco, P., Vainzof, M., Froehner, S. C., Peters, M. F., Marie, S. K. N., Passos-Bueno, M. R., Kunkel, L. M. and Zatz, M., 2000. Brazilian family with pure autosomal dominant spastic paraplegia maps to chromosome 8q: Analysis of muscle beta 1 syntrophin. Am J Med Gen

Takada, F., Vander Woude, D., Tong, H.-Q., Thompson, T., Watkins, S., Kunkel, L. and Beggs, A., 2001. Myozenin: An a-actinin and g-filamin-binding protein of skeletal muscle Z lines. PNAS . 98, 1595-1600.

O'Brien, K. F., Engle, E. C. and Kunkel, L. M., 2001. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genetics. 2, 3.

Mizuno, Y., Thompson, T., Guyon, J., Lidov, H. G. W., Brosius, M., Imamura, M., Ozawa, E., Watkins, S. and Kunkel, L. M., 2001. Desmulin, an intermediate filament protein that interacts with x-dystrobrevin and desmin. PNAS. 98, 6156-6161.

Puca, A., Daly, M., Brewster, S. I., Mtise, T., Drinkwater, M., Bowen-Flynn, J., Kang, S., Joyce, E., Nicoli, J., Benson, E., Kunkel, L. M. and Perls, T., 2001. A genome-wide scan for linage to human exceptional longevity identifies a locus on chromosome 4. PNAS. 98, 10505-10508.

de Paula, F., Vainzof, M., Bernardino, A. L. F., McNally, E., Kunkel, L. M. and Zatz, M., 2001. Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Gen. 99, 303-307.

Perls, T., Kunkel, L. and Puca, A., 2002. The genetics of aging. Curr Opin Genet Dev. 12, 362-369.

Perls, T. T., Wilmoth, J., Levenson, R., Drinkwater, M., Cohen, M., Bogan, H., Joyce, E., Brewster, S., Kunkel, L. and Puca, A., 2002. Life-long sustained mortality advantage of siblings of centenarians. PNAS . 99, 8442-8447.

Gussoni, E., Bennett, R. R., Muskiewicz, K. R., Meyerrose, T., Nolta, J. A., Gilgoff, I., Stein, J., Chan, Y. M., Lidov, H. G., Bonnemann, C. G., Von Moers, A., Morris, G. E., Den Dunnen, J. T., Chamberlain, J. S., Kunkel, L. M. and Weinberg, K., 2002. Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest. 110, 807-814.

Spencer, M. J., Guyon, J., Sorimachi, H., Potts, A., Richard, I., Herasse, M., Chamberlain, J., Dalkilic, I. , Kunkel, L. and Beckmann, J. S., 2002. Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation. PNAS. 99, 8874-8879.

Haslett, J. N., Sanoudou, D., Kho, A. T., Bennett, R. R., Greenberg, S. A., Kohane, I. S., Beggs, A. H. and Kunkel, L. M., 2002. Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. PNAS. 99, 15000-15005.

Greenberg, S. A., Sanoudou, D., Haslett, J. N., Kohane, I. S., Kunkel, L. M., Beggs, A. H. and Amato, A. A., 2002. Molecular profiles of inflammatory myopathies. Neurology. 59, 1170-11.

Guyon, J., Mosley, A. N., Zhou, Y., O'Brien, K., Sheng, X., Chiang, K., Davidson, A. J., Volinski, J. M., Zon, L. and Kunkel, L., 2003. The dystrophin associated protein complex in zebrafish. Hum Mol Gen. 12, 601-615.

Haslett, J. N., Sanoudou, D., Kho, A. T., Han, M., Bennett, R. R., Kohane, I. S., Beggs, A. H. and Kunkel, L. M., 2003. Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 4, 163-171.

Sanoudou, D., Haslett, J. N., Kho, A. T., Guo, S., Gazda, H. T., Greenberg, S. A., Lidov, H. G. W., Kohane, I. S., Kunkel, L. M. and Beggs, A. H., 2003. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. PNAS. 100, 4666-4671.

Montanaro, F., Liadaki, K., Volinski, J. M., Flint , A. and Kunkel, L., 2003. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. PNAS. 100.

Nimgaonkar, A., Sanoudou, D., Butte, A. J., Haslett, J., Kunkel, L., Beggs, A. H. and Kohane, I. S., 2003. Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics. 4, 27.

Gessaman, B. J., Benson, E., Brewster, S. J., Kunkel, L., Beggs, A. H. and Kohane, I. S., 2003. Haplotype based identification of a microsomal transfer protein marker associated with human lifespan. PNAS. 100.

Tomczak, K., Marinescu, V. D., Ramoni, M. F., Sanoudou, D., Montanaro, F., Han, M., Kunkel, L., Kohane, I. S. and Beggs, A. H., 2004. Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J. 18, 403-405.

Shi, W., Chen, Z., Schottenfeld, J., Stahl, R., Kunkel, L. and Chan, Y., 2004. Specific assembly pathway of sarcoglycans is dependent on beta- and delta- sarcoglycan. Muscle & Nerve. 29, 409-419.

Bachrach, E., Li, S., Perez, A. L., Schienda, J., Liadaki, K., Volinski, J. M., Flint , A., Chamberlain, J. and Kunkel, L., 2004. Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells. PNAS. 101, 3581-35856.

Mizuno, Y., Guyon, J., Watkins, S., Mizushima, K., Sasaoka, T., Imamura, M., Kunkel, L. and Okamoto, K., 2004. B- Synemin localizes to regions of high stress in human skeletal myofibgers. Muscle & Nerve. 30, 337-346.

Montanaro, F., Liadaki, K., Schienda, J., Flint , A., Gussoni, E. and Kunkel, L., 2004. Demystifying SP cell purification: viability, yield and phenotype are defined by isolation parameters. Exper Cell Res. 298.

Guyon, J., Mosley, A. N., Jun, S. J., Montanaro, F., Steffen, L. S., Zhou, Y., Nigro, V., Zon, L. and Kunkel, L., 2004. d- Sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res. 304, 105-115.

Liadaki, K., Kho, A. T., Sanoudou, D., Schienda, J., Flint, A., Beggs, A. H., Kohane, I. S. and Kunkel, L., 2005. Side population cells isolated from different tissues share transcriptome signatures and express tissue- specific markers. Exper Cell Res. 303, 360-374.

Created 1/4/2006 by Evette Mezger
Last modified 12/27/2016 by Theresa Trapilo