Mitochondrial Diseases

We characterized mtDNA and nuclear DNA-based OXPHOS diseases in Russian and Ukrainian populations to better understand the etiology and mechanisms of the expression of mitochondrial disorders in population-specific genetic backgrounds.

Mitochondrial Diseases in Ukraine

Collaboration with Dr. Elena Y. Grechanina from the Kharkiv Medical Institute to study pediatric mitochondrial diseases in Ukraine.

Political map of Ukraine with provinces shown. Source: https://www.worldatlas.com/maps/ukraine

T.G. Schurr Meets Governor Avakov in Kharkiv. Photo Credit: Mayoral staff photographer

Dr. E.Y. Grechanina Talks with Governor Avakov. Photo Credit: Mayoral staff photographer

Discussing the Mitochondrial Disease Research Project in Kharkiv. Photo Credit: Mayoral staff photographer

Kharkiv Medical Institute. Photo credit: T.G. Schurr

Dr. Ekaterina Grechanina instructing a student. Photo credit: T.G. Schurr

T.G. Schurr with Kharkiv Medical Institute doctors. Photo Credit: Vlada Gusar

Vlada Gusar, PhD student at Kharkiv Medical Institute. Photo credit: T.G. Schurr

During our visit in 2008, we visited Kharkiv National Medical University, and explored its museum, library and

Kharkiv National Medical University. Source: https://en.wikipedia.org/wiki/Kharkiv_National_Medical_University

Kharkiv National Medical University Museum. Photo credit: T.G. Schurr

Desk and study materials for 1919 medical students, Kharkiv National Medical University Museum. Photo credit: T.G. Schurr

During our initial visit in 2006, we had a chance to explore the city of Kharkiv, despite the snowy weather. The following photos provide a brief visual guide to this historic city in Ukraine.

Artists selling paintings in the Kharkiv City Park, Winter 2006. Photo credit: T.G. Schurr

Cathedral of the Assumption of the Blessed Virgin Mary, Kharkiv. Photo credit: T.G. Schurr

Kharkiv Center for the Arts. Photo credit: T.G. Schurr

Pushkin Theater. Photo credit: T.G. Schurr

A view of downtown Kharkiv. Photo credit: T.G. Schurr

State Radio Station, Kharkiv. Photo credit: T.G. Schurr

Annunciation Cathedral. Photo credit: T.G. Schurr

Publications

Schurr TG, Grechanina YB, Gusar VA, Grechanina EY, Zhadanov SI. 2012. Mitochondrial diseases in Ukraine: Role of mtDNA mutations in complex clinical syndrome and neurodegenerative diseases. J Ukr Acad Med Sci [in Ukrainian].

Gusar VA, Grechanina JB, Zhadanov SI, Schurr TG, Grechanina YB, Fadeeva AL. 2011. Visualizing exact mitochondrial DNA mutations through the method of restriction analysis. Clinical Genetics 1-2: 95-111 [in Ukrainian].

Zhadanov SI, Grechanina EY, Grechanina YuB, Gusar VA, Fedoseeva NP, Schurr TG, Doronin BM. 2008. Clinical complex syndromes: Importance of genetic screening of mtDNA mutations in the diagnosis of mitochondrial neurodegenerative syndromes. Zh Nevrol Psikhiatr Im S S Korsakova 108(5): 80-83 [in Ukrainian].

Zhadanov SI, Grechanina EY, Grechanina YB, Gusar VA, Fedoseeva NP, Lebon S, Münnich SA, Schurr TG. 2007. Fatal manifestation of a de novo ND5 mutation: Implication for the pathogenetic mechanisms of ND5 gene defects. Mitochondrion 7(4): 260-266.

Zhadanov SI, Grechanina EY, Grechanina YB, Gusar VA, Fedoseeva NP, Schurr TG. 2006. Studying mitochondrial diseases in the Ukraine: The role of de novo ND5 mutations and pathogenic mechanisms of genetic defects in the ND5 gene. J Ukr Acad Med Sci 12(3): 443-456 [in Ukrainian].

Zhadanov SI, Atamanov VV, Zhadanov NI, Schurr TG. 2006. De novo COX2 mutation in a LHON family of Caucasian origin: Implication for the role of mtDNA polymorphism in human pathology. J Hum Genet 51(3): 161-170.

Zhadanov SI, Atamanov VV, Zhadanov NI, Oleinikov OV, Osipova LP, Schurr TG. 2005. A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family. Biochem Biophys Res Comm 332: 1115-1121.

Wallace DC, Stugard C, Murdock D, Schurr TG, Brown MD. 1997. Ancient mitochondrial DNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations. Proc Natl Acad Sci USA 94(26): 14900-14905.

Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas, II, LJ, Nikoskelainen EK. 1988. Mitochondrial DNA mutation associated with Leber’s Hereditary Optic Neuropathy. Science 242(4884): 1427-1430.

Laboratory of Molecular Anthropology
University of Pennsylvania
421 University Museum
3260 South Street
Philadelphia, PA 19104-6398
Tel: 215-573-2656

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