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Research: Molecular Analysis of neuromuscular Disorders

The research in our group is mainly concerned with molecular genetic analysis of inherited motor and sensory neuropathies (HMSN) of the peripheral nervous system. The disease is also known as Charcot-Marie-Tooth (CMT) and is clinically and genetically heterogeneous.

DNA diagnosis is established and can now be offered in our laboratory to a large number of families with different forms of CMT. CMT1A duplication, which is the most common molecular defect responsible for CMT1 phenotype, as well as mutations in PMP22, MPZ, CX32, EGR2, PRX, and NFL genes can be detected by our group. Molecular diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Dejerine-Sottas Syndrome (DSD) can also be performed. The purpose of these type of studies is to unravel the molecular basis of the disease in Turkey and help identification of the mechanisms underlying the disease pathology by genotype-phenotype correlation.

Fluorescent in situ Hybridization (FISH) method is established in our laboratory for direct identification of CMT1A duplication and HNPP deletion. We are planning to extend its use for localization of disease genes.

We aim at identifying causative genes for CMT Type 4 (CMT4) and autosomal dominant and recessive forms of CMT Type 2 (CMT2) using linkage analysis for Turkish CMT families.