Dr Charles Abrams Lab Page2017-10-08T18:13:59+00:00

Welcome to the Abrams lab home page

Crystal structure of a connexin molecule.

Crystal structure of a connexin molecule. Left, side view of cell-cell channel. Right, view through center of the pore of the channel

Our research focuses on the roles of connexins, or gap junction proteins, in myelinating glia of the central and peripheral nervous systems. Our work utilizes cutting edge techniques in genomics, proteomics, cell biology and electrophysiology, and is yielding exciting insights into a number of human diseases. We have ongoing research projects studying the role of connexins in X-linked Charcot-Marie- Tooth disease (an inherited disease affecting brain and peripheral nerves, Pelizaeus- Merzbacher like disease, PMLD (a devastating brain disease) and Multiple sclerosis. More detailed descriptions of our ongoing research projects are available here. Our work has been funded by grants from the National Institutes of Health, the Muscular Dystrophy Association and the National Multiple Sclerosis Society. To contact us or view a list of lab personnel click here.

Selected Recent Publications

  • Abrams C.K., Islam M, Mahmoud R, Kwon T, Bargiello TA, Freidin MM. Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32. (2013) J Biol Chem 288(5):3609-19. PubMed PMID:23209285
  • Caramins M., Colebatch J.G., Bainbridge M.N., Scherer S.S., Abrams C.K., Hackett E , Freidin M.M., Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA. (2013) Exome sequencing identification of a Gjb1 missense mutation in x-linked Spinocerebellar ataxia (SCA-X1) Hum. Mol. Genet. 22: 4329-38. PMID: 23773993; PMCID: PMC3792691.
  • Abrams C.K., Scherer S.S., Flores-Obando R., Freidin M.M., Wong .S., Lamantea E., Farina L., Scaioli V., Pareyson D., Salsano E. A new mutation in GJC2 associated with subclinical leukodystrophy. (2014) J Neurol J Neurol. 261(10):1929-38. doi:10.1007/s00415-014-7429-1. PMID: 25059390; PMCID: PMC4301586.
  • Freidin M., Asche-Godin S., Abrams C.K.. Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: Uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves. (2015) Exp Neurol. Jan;263:339-49. doi: 10.1016/j.expneurol. 2014.10.014. Epub 2014 Oct 23. PubMed PMID: 25447941.
  • Olympiou M., Sargiannidou I., Markoullis K., Karaiskos C., Kagiava A., Kyriakoudi, S., Abrams C. K., Kleopa K.A. Systemic inflammation disrupts oligodendrocyte gapjunctions and induces ER stress in a model of CNS manifestations of X-linkedCharcot-Marie-Tooth disease. (2016) Acta Neuropathol Commun. 4(1):95. doi:10.1186/s40478-016-0369-5. PubMed PMID: 27585976; PubMed Central PMCID: PMC5009701.
  • Abrams, C.K.,. Mikhail Goman M. Sarah Wong S., Scherer S.S., Kleopa K.A., Peinado A., Freidin M.F. Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations. (2017) Sci Rep. Jan 10;7:40166. doi:10.1038/srep40166. PubMed PMID: 28071741.
  • Abrams C.K. Diseases of connexins expressed in myelinating glia. Neurosci Lett.2017 May 23. pii: S0304-3940(17)30433-0. doi: 10.1016/j.neulet.2017.05.037. PubMed PMID: 28545922.

For a complete List of Publications Click here.

Current Investigations

Nerve Biopsy CMT Disease

Nerve biopsy from a patient with X-linked CMT. Arrows show supernumerary Schwann cell processes.

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 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) and oligodendrocytes, the myelinating cells of the peripheral and central nervous system, respectively. Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to neural dysfunction. Our hypothesis focuses on mitochondrial dysfunction as a central component in the pathology of this disorder.  Current investigations include in vivo studies and ex vivo approaches using genetically altered mice expressing the mutant forms of Cx32 to study mitochondrial function, RNA profiling studies, and proteomic approaches to identify interactions between Cx32 and other proteins.

PMLD (a devastating brain disease)

Primary oligodendrocyte cultures expressing PMLD and HSP causing variants of Cx47.

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

Mutations in human CX47 cause either a Charcot-Marie- Tooth disease is a group of inherited disorders that 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) and oligodendrocytes, the myelinating cells of the peripheral and central nervous system, respectively. Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to neural dysfunction. Our hypothesis focuses on mitochondrial dysfunction as a central component in the pathology of this disorder.  Current investigations include in vivo studies and ex vivo approaches using genetically altered mice expressing the mutant forms of Cx32 to study mitochondrial function, RNA profiling studies, and proteomic approaches to identify interactions between Cx32 and other proteins.

Connexins in multiple sclerosis.

Results of EAE treatment. Cx47 knockout mice are more susceptible than Cx32 knockout mice, which are more susceptible than wild-type mice.

Connexins in multiple sclerosis.

Charcot-Marie- Tooth disease is a group of inherited disorders that 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) and oligodendrocytes, the myelinating cells of the peripheral and central nervous system, respectively. Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to neural dysfunction. Our hypothesis focuses on mitochondrial dysfunction as a central component in the pathology of this disorder.  Current investigations include in vivo studies and ex vivo approaches using genetically altered mice expressing the mutant forms of Cx32 to study mitochondrial function, RNA profiling studies, and proteomic approaches to identify interactions between Cx32 and other proteins.

Lab Personnel

Charles Abrams cabrams1@uic.edu

Post Doctorates

  • Dr. Alejandro Peinado PhD,
  • Dr. Mona Freidin PhD,

Graduate Students

  • Samantha Keil PhD Student