Charles K Abrams

    Email Address:
    College: Medicine Department: Neurology and Rehabilitation Medicine
    Title: Visiting Professor
    Phone: 55859
    Participating in the Chancellor’s Undergraduate Research Awards program: Yes

    Research Interest:
    The overarching theme of the work in my laboratory is the roles of connexins, proteins important in communication between cells, in the normal function of central and peripheral nervous system and in human disease. To this end we use cellular molecular and electrophysiological techniques to investigate the following areas:

    1. Studies of X-linked Charcot-Marie-Tooth disease (an inherited disease affecting brain and peripheral nerves.

    Charcot-Marie-Tooth disease is a group of inherited disorders that predominantly or exclusively affect the peripheral nervous system. CMT1X, the X-linked form of Charcot-Marie-Tooth disease, is associated with mutations in connexin 32 (Cx32), a gap junction protein expressed in Schwann cells (SCs). Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to peripheral neuropathy. Current investigations include in vivo studies using genetically altered mice expressing the mutant forms of Cx32 and DNA microarray studies to examine the effects of expression of WT vs. mutant forms of Cx32 on expression of other genes in virally infected SCs.

    2. Studies of Pelizaeus-Merzbacher like disease, PMLD (a devastating brain disease) and related disorders.

    Mutations in human CX47 cause either a mild disorder, (hereditary spastic paraparesis HSP) or a more severe one (Pelizaeus-Merzbacher like disease) Evaluation of Cx47 mutations that cause PMLD show that these mutations cause complete loss of function while the mutations causing HSP appears to lead to partial loss of function. In a primary oligodendrocyte culture system we have found that PMLD mutations appear to activate the UPR while HSP mutants do not. We are currently pursuing this finding to further examiner the role of the UPR in this disease. In addition we plan to use DNA microarray studies to examine the effects of expression of WT vs. mutant forms of Cx47 on expression of other genes.

    3. Connexins in multiple sclerosis.

    Because Cx32 and Cx47 seem to be required for myelin stability, we are currently examining the hypothesis that mice lacking either of these connexins may be more susceptible to demyelination. Preliminary experiments suggest that Cx47 knockout mice are more susceptible to Experimental Allergic Encephalitis (a model of multiple sclerosis) than are wild-type mice. We are pursuing this observation and are examining the possibility that this increased susceptibility is due to mitochondrial dysfunction in mice lacking either Cx32 or Cx47.

    Minimum time commitment in hours per week: 15

    Qualifications of a Student:
    All applications from students in good standing with strong motivation to work in a translational neuroscience laboratory will be considered. Ideally students should have completed at least biology, general chemistry and one semester of calculus by the time they enter the lab. A Math and Science GPA above 3.5 would be a plus. Strong physics and math background is a requirement for some projects in the lab (involving electrophysiologic recordings).

    Brief Summary of what is expected from the student:
    The student will be expected to participate in the conduct of experiments under the guidance of more senior lab members. Like all members of the lab, the student will be expected to participate in laboratory maintenance relevant to his or her experiments. Attention to experimental details and accurate recording of procedures and results in a laboratory notebook are cornerstones of good science; the student will be expected to adhere to these principles.

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