Research Abstract:
The overall goal of the lab is to understand mechanisms of neurodegeneration in the peripheral nervous system using in vitro and mouse modeling based on insights from human genetics.
Neurodegeneration in the peripheral nervous system has classically been divided into two forms - (1) neuropathy, characterized by length dependent axonal degeneration without cell body loss, and (2) neuronopathy, characterized by non-length dependent motor or sensory neuron degeneration. To understand mechanisms of peripheral neuropathy we are focusing on inherited forms of the disease, known as Charcot-Marie-Tooth disease. The molecular pathways defined by genes mutated in hereditary axonal neuropathy are critical for the maintenance of long peripheral axons, and are potential candidates for therapeutic manipulation. To investigate mechanisms of neuronopathy we are exploring the role of mutations in the TDP-43 protein in inherited motor neuron disease (a.k.a. amyotrophic lateral sclerosis or Lou Gehrig's disease).
Selected Publications:
Baloh RH, Strickland A, Ryu E, Le N, Fahrner T, Yang M, Nagarajan R, Milbrandt J. Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. J Neurosci. 2009 Feb 25;29(8):2312-21.
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol. 2008 Apr;63(4):535-8
Baloh RH. Mitochondrial dynamics and peripheral neuropathy. Neuroscientist 2008; Feb;14(1):12-8.
Baloh RH, Rakowicz W, Gardner R, Pestronk A. Frequent Atrophic Groups with Mixed-type Myofibers is Distinctive to Motor Neuron Syndromes. Muscle and Nerve 2007 36:107-110.
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007 64:998-1000.
Last Updated: 08/10/2009 |