Prof. Dr. Esra BATTALOĞLU
Molecular Biology and Genetics
Kuzey Park, 311
34342 Bebek - Istanbul
+90 (212) 359 6883
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Human Genetics of Inherited Peripheral Neuropathies
The research focus of Dr. Battaloğlu’s lab (CMT Lab) is to unravel the genes and the molecular mechanisms that are responsible for inherited peripheral neuropathies. Hereditary Motor and Sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. We have the honor of leading genetic diagnosis and research for identification of novel genes for CMT in Turkey. Genetic analysis among our patients, referred to our laboratory from different regions of our country by neurologists, helped identification of CMT genes, namely MFN2 and SH3TC2 that are among the most commonly mutated genes, HINT1 and FGD4. Our lab is one of the international reference labs with our large number of patient samples and publications.
Hereditary Spastic Paraplegia (HSP) is another inherited neuropathy that we are interested in since 2010. Samples of Turkish HSP families are initially analyzed by targeted sequencing to determine the responsible mutations among known HSP genes. We have identified KIF1C as a novel HSP gene by exome sequencing in autosomal recessive HSP cases. We are currently performing whole exome sequencing (WES) and linkage analysis to define novel CMT and HSP genes and confirming our findings in tissue cultures with our international collaborations and projects founded by TUBITAK.
To contribute to the understanding of the molecular mechanisms of CMT disease we have developed a Drosophila melanogaster CMT model for the GDAP1 gene. We have shown that the model developed neuropathy both by behavioral tests and immune-staining of its nerve and muscle tissues.
In one other project, founded by TUBİTAK, fibroblast growth factor 1 (FGF1) was shown to be a candidate factor involved in myelination process in the peripheral nervous system of mouse. Our studies are still ongoing to provide further evidence for this finding using mouse sciatic nerve and DRG tissue.
Our aim is to define the molecules and illuminate the molecular mechanisms that cause these disorders. In this way, we hope to contribute to the development of therapies for these diseases with our findings.
- Candayan A, Yunisova G, Çakar A, Durmuş H, Başak AN, Parman Y, Battaloğlu E. (2020) The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics. Jan;21(1):73-78. doi: 10.1007/s10048-019-00594-1.
- Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A (2015) Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. Genet Med., doi: 10.1038/gim.2015.139.
- Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR (2015) Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep., 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023.
- Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A (2015) Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics, 16(1):33-42. doi: 10.1007/s10048-014-0422-0.
- Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R (2014) Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology, 82(22):2007-16. doi: 10.1212/WNL.0000000000000479.
- Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR (2014) Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med., 16(5):386-94. doi: 10.1038/gim.2013.155.