21. Main John Garthwaite, PhD. Neurochemistry. mitochondrial genetics MitochondrialGenetics. mitochondrial genetics. Viral Oncology CRC Viral Oncology. http://www.ucl.ac.uk/wibr/2/research/research.htm

Laboratories - Learning and Memory Research Head of Laboratory: Dr. Karl Peter Giese, PhD Molecular and Cellular Biology Head of Laboratory : Prof. Ian Charles, PhD Chromosomal Replication Group Head of Laboratory : Prof. Gareth Haydn Williams, PhD Cardiovascular Research Head of Laboratory : Prof. Salvador Moncada, PhD Cell Proliferation Head of Laboratory : Prof. David Beach, PhD Neural Signalling Head of Laboratory : Prof. John Garthwaite, PhD Mitochondrial Genetics Head of Laboratory : Dr. Brigitte Meunier, PhD Viral Oncology Head of Laboratory : Prof: Chris Boshoff, PhD Developmental Genetics Head of Laboratory : Prof. William D Richardson PhD Functional genomics Head of Laboratory : Dr. Georgy Koentges PhD Biological and Medicinal Chemistry Head of Laboratory : Dr. David L. Selwood, PhD, CChem, MRSC

22. Neuroscience - Neurology, Neurobiology And Psychiatry - University Of Newcastle Project Title Mammalian mitochondrial genetics heredity and heteroplasmy. http://www.ncl.ac.uk/nnp/research/neuroscience/projects-24.html

University of Newcastle Neurology, Neurobiology and Psychiatry Research Neuroscience ... Neurology, Neurobiology and Psychiatry Search Home Site Map Advanced Search Undergraduate ... Mitochondrial and Neurological Research Group printable version Project Title: Mammalian mitochondrial genetics: heredity and heteroplasmy Principal Investigators: Patrick Chinnery Douglass Turnbull Robert Lightowlers Staff: Joanna Elson Rob Taylor Denise Brown Geoffrey Taylor Collaborators: Neil Howell (UTMB, Texas USA) Henrik Dahl and David Thorburn (Murdock Institute, Melbourne, Aus) David Samuels (Newcastle, UK) Overview: The mitochondrial genome (mtDNA) is a relatively small (16.569bp) circular genome found in multicopy in the mitochondria of all human cells. When a mutation occurs, it will be present in a vanishingly small proportion of the total mtDNA content but will occasionally become fixed in an individual by processes that are not fully understood. Further, if the mutation is pathogenic, it is difficult to predict whether this mutation will be transmitted from the mother to her offspring, what amount of mutated mtDNA will be transferred and how the mutated mtDNA will segregate during development. It is our goal to understand these processes so that we will eventually be able to provide genetic counseling for women who harbour pathogenic mtDNA mutations.

23. Current Research Projects - Neurology, Neurobiology And Psychiatry - University Mitochondrial and Neurological Research Group. Project TitleMammalian mitochondrial genetics heredity and heteroplasmy. http://www.ncl.ac.uk/nnp/research/mnrg/curproject/currproj-6.html

University of Newcastle Neurology, Neurobiology and Psychiatry Research Mitochondrial and Neurological Research Group ... Neurology, Neurobiology and Psychiatry Search Home Site Map Advanced Search Undergraduate ... External Web Links printable version Mitochondrial and Neurological Research Group Project Title: Mammalian mitochondrial genetics: heredity and heteroplasmy Principal Investigators: Patrick Chinnery Douglass Turnbull Robert Lightowlers Staff: Joanna Elson Rob Taylor Denise Brown Geoffrey Taylor Collaborators: Neil Howell (UTMB, Texas USA) Henrik Dahl and David Thorburn (Murdock Institute, Melbourne, Aus) David Samuels (Newcastle, UK) Overview: The mitochondrial genome (mtDNA) is a relatively small (16.569bp) circular genome found in multicopy in the mitochondria of all human cells. When a mutation occurs, it will be present in a vanishingly small proportion of the total mtDNA content but will occasionally become fixed in an individual by processes that are not fully understood. Further, if the mutation is pathogenic, it is difficult to predict whether this mutation will be transmitted from the mother to her offspring, what amount of mutated mtDNA will be transferred and how the mutated mtDNA will segregate during development. It is our goal to understand these processes so that we will eventually be able to provide genetic counseling for women who harbour pathogenic mtDNA mutations.

24. UTMB'S Department Of Human Biological Chemistry & Genetics RN, Chinnery, PF, Turnbull, DM, and Howell, N. (1997) Mammalian mitochondrial geneticsheredity, heteroplasmy and disease. Trends in Genetics 13450455. http://www.hbcg.utmb.edu/faculty/howell/

FACULTY INDEX - ALPHABETIZED FACULTY INDEX - GRADUATE PROGRAM FACULTY INDEX - BY DISCIPLINE FACULTY PHOTOS GENETICS Neil Howell Professor Department of Radiation Oncology, Department of Experimental Pathology Telephone: (409) 772-1740 Fax: (409) 772-3387 E-mail: nhowell@utmb.edu Campus Location: 3.346 Gail Borden Bldg. Mail Route: 0656 Education B.A. 1968 University of Kansas Ph.D. 1972 University of Wisconsin Research Interests A Gene Map of the Human Mitochondrial DNA Selected Publications Beal, M. F., Howell, N., Bodis-Wollner, I., Editors (1997) Mitochondria and Free Radicals in Neurodegenerative Diseases. Wiley-Liss, New York. Howell, N. (1998). "Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve." Vision Res. 38:1495-1504. Howell, N., Bogolin, C., Jamieson, R., Marenda, D. R., and Mackey, D. A. (1998) "Mitochondrial DNA mutations that cause optic neuropathy: How do we know?" Amer. J. Human Genet. 62:196-202. Lightowlers, R. N., Chinnery, P. F., Turnbull, D. M., and Howell, N. (1997) "Mammalian mitochondrial genetics: heredity, heteroplasmy and disease." Trends in Genetics 13:450-455.

25. Genetics Topics & Schedule 0830 0910 Mitochondrial Disorders – An introduction to MitochondrialGenetics. Dr. Massimo Zeviani. 1345 - 1430 mitochondrial genetics. http://www.kfshrc.edu.sa/symposia/html/genetics_topics___scedule.html

You are navigating: Symposium Recent Advances in Clinical Genetics and Mitochondrial Disorders Topics Schedule: DAY 1: Monday March 17, 2003 DAY 2: Tuesday March 18, 2003 DAY 3: Wednesday March 19, 2003 Topics Clinical Genetics Mitochondrial Disorders Inborn Errors of Metabolism Neonatal Screening Neurogenetics Neurometabolic Molecular/Cytogenetics Human Genomics Saudi Experience TOPICS AND SCHEDULES DAY 1, Monday, 17 March 2003 / 14 Muharram 1424 07:30 REGISTRATION 08:00 - 08:10 Reading of the Holy Quran 08:10 - 08:25 Opening Remarks Dr. Moeen Al Sayed, organizing Committee Chairman 08:25 - 08:30 Dr. Abdulrahman Alrajhi, Associate Executive Director, CME Academic and Training Affairs SESSION I – CLINICAL GENETICS / MITOCHONDRIAL DISORDERS I Chairman: Dr. Suad Al-Yamani Co-chairman: Dr. Marios Kambouris 08:30 - 09:10 Mitochondrial Disorders – An introduction to Mitochondrial Genetics Dr. Massimo Zeviani

26. University Of Manitoba Dept. Of Botany I) mitochondrial genetics of Neurospora crassa and Podospora anserina (and applicationof mitochondrial genetics in attenuating virulence in plant pathogens http://www.umanitoba.ca/faculties/science/botany/faculty_staff/hausner/hausner.h

Assistant Professor Office: 503 Buller Building E-mail: xxxx@cc.umanitoba.ca Telephone: (204) 474-9542 Fax: (204) 474-7604 Fungal genetics and evolution I) Mitochondrial genetics of Neurospora crassa and Podospora anserina (and application of mitochondrial genetics in attenuating virulence in plant pathogens, example Cryphonectria parasitica ): (1) Mode of replication of mitochondrial genomes and associated plasmid and plasmid-like elements. (2) The spread of group-I and group-II mitochondrial introns within the fungi. (3) Fungal senescence and hypovirulence (reduced pathogenicity in plant pathogenic fungi) due to mitochondrial defects. II) Fungal Evolution (Phylogenetics): Phylogeny of bark-beetle associated blue-stain fungi and forest pathogens ( Ophiostoma, Ceratocystis, Sphaeropsis ) and anaerobic fungi (rumen fungi). Publications: Hausner, G. , Nummy, K.A., Stoltzner, S., Hubert, S.K., and Bertrand, H. Nucleotide sequence, replication, asexual transmission and meiotic extinction of a small plasmid-like derivative of the mitochondrial DNA in Neurospora crassa . (submitted in to Genetics). Hausner, G.

27. ATE Responses you describe and the diagnosis given of a mitochondrial myopathy suggest a disorderthat follows the rules of mitochondrial genetics (maternal inheritance). http://www.mdausa.org/experts/question.cfm?id=2183

28. MDA / Quest 6-4 / Mitochondrial Myopathy -- An Energy Crisis In The Cells MITOCHONDRIAL MYOPATHY AN ENERGY CRISIS IN THE CELLS by Sharon Hesterlee. Story continued from previous screen. THE mitochondrial genetics MAZE. http://www.mdausa.org/publications/Quest/q64mito2.html

QUEST Current Issue Back Issues Stories by Topic ... Contents of This Issue Volume 6, Number 4, August 1999 MITOCHONDRIAL MYOPATHY: AN ENERGY CRISIS IN THE CELLS by Sharon Hesterlee THE MITOCHONDRIAL GENETICS MAZE The inheritance patterns of the mitochondrial encephalomyopathies can be quite complicated. The mutations that cause these diseases can be in the chromosomes; this is what's usually meant when people talk about a genetic or inherited disease. But mitochondrial encephalomyopathies have a unique situation. People can also inherit one of these diseases through mutations in the mitochondrial DNA (mtDNA), which comes from the mother only. Mitochondria are the only parts of the cells that have their own DNA, separate from that of the chromosomes in the cell's nucleus, called nuclear DNA. This situation occurs because the mitochondrial respiratory chain, which is the final step in the energy-making process, is made up of proteins that come from both nuclear and mtDNA (see illustration ). Although only 13 of roughly 100 respiratory chain proteins come from the mtDNA, these 13 proteins contribute to every part of the respiratory chain except complex II, and 24 other mitochondrial genes are required just to manufacture those 13 proteins. Thus, a defect in either a nuclear gene or one of the 37 mitochondrial genes can cause the respiratory chain to break down. (This respiratory chain has nothing to do with breathing.) When mitochondrial disease is caused by defects in the nuclear DNA, the inheritance follows a "Mendelian" pattern, just as other inherited disorders do (named for Gregor Mendel, the 19th-century scientist who first explained inheritance). These inheritance patterns include autosomal dominant, autosomal recessive and X-linked. Leigh syndrome (caused by defects in complexes I and IV) is one of the most common forms of mitochondrial encephalomyopathy inherited in this fashion. It's usually autosomal recessive, meaning that two copies of the defective gene, one from each parent, are required to produce the disease.

29. CMGS-Imprinting Etc - David Bonthron/Andrew Wallace/16.1.98 mitochondrial genetics ETC Topic Organiser Andrew Wallace. 1. The mitochondrialgenome. Describe the structure and function of the mitochondrial genome. http://www.ich.ucl.ac.uk/cmgs/nmitoimp.htm

Preparation for MRCPath part 1 1997-8 Edinburgh 16/1/98 Imprinting and associated diseases Topic Organiser: David Bonthron. 1. Diagnostic protocol for Prader-Willi and Angelman syndromes See CMGS best practice guidelines. 2. Genetic abnormalities in Beckwith syndrome (i.) "Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. " (1996) Brown KW et. al. Hum Mol Genet 5:2027-32 (ii) "Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors." (1997) O'Keefe D et. al. Am J Hum Genet 61: 295-303 3. Effects and implications of uniparental disomy (i) "Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. " (1995) Ledbetter DH; Engel E Hum Mol Genet 4:Spec No 1757-64 4. Imprinting clusters and imprinting centres (i).."Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene " (1996) Dittrich B et al Nat Genet 14: 163-70 (ii.) "Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15." (1995)

30. CMGS-Mitochondrial Inheritance Etc/16.12.97 Patterns of inheritance, mitochondrial genetics, imprinting and heterogeneity.Birmingham December 16th 1997 and November 19th 1998. http://www.ich.ucl.ac.uk/cmgs/seller.htm

MRCPath Training course : Birmingham 97/98 and 98/99 Patterns of inheritance, mitochondrial genetics, imprinting and heterogeneity Birmingham December 16th 1997 and November 19th 1998 Topic Organiser: Anneke Seller Presentations : 10 minutes each Overview of autosomal recessive, autosomal dominant and X linked inheritance Use pedigrees to illustrate transmission : mention effects of penetrance, and skewed X inactivation, variable expression/anticipation, mosaicism. Lists of diseases (avoid mitochondrial, and non medelian traits) Genes in pedigrees : Chapter 3 in Human Molecular Genetics. Strachan and Read ( Bios Scientific Publishers) Mitochondrial inheritance. (1) Mitochondrial pedigrees, maternal inheritance, Mitochondrial genome organisation, mutation rate, heteroplasmy and homoplasmy, multisystem disease : clinical background to defined syndromes MELAS, MERRF, LHON, and name point mutations, associated with these diseases. a) Lightowlers et al., TIG November 1997 vol 13 page 450 -454 b) Hammans S, in 'From Genotype to Phenotype', chapter 11 page 209-231

31. Carlos T. Moraes Ph.D. mitochondrial genetics Biology Group (2001). PICTURES OF FORMER LAB MEMBERS. WWWlinks related to mitochondrial genetics and Moraes' research. http://chroma.med.miami.edu/cellbio/Moraes/Moraes.html

Carlos T. Moraes Associate Professor of Neurology and Cell Biology and Anatomy Ph.D. (1993) Columbia University Human Genetics; Molecular Pathogenesis of Disease-Related Mitochondrial DNA Mutations Although mitochondrial genetics of yeast and trypanosomes has been extensively explored in the last 20 years, the study of human mitochondrial DNA (mtDNA) gained momentum in 1988 with the discovery of diseases associated with mtDNA mutations. The human mtDNA is a compact circular genome (16.6 kb) coding for components of the ATP-producing oxidative phosphorylation system. Because mtDNA-coded polypeptides are synthesized in mitochondrial-specific ribosomes, the mtDNA also codes for a set of rRNAs and tRNAs necessary for intraorganelle translation. The contribution of the mitochondrial genome to cellular respiration, though vital, is not sufficient. Dozens of nuclear-coded proteins synthesized in the cytoplasm are imported into mitochondria and assembled with mitochondrially-synthesized proteins to form a functional oxidative phosphorylation system. Large-scale rearrangements and point mutations of mtDNA have been associated with devastating clinical syndromes. Organs with high energy requirements such as brain and muscle are preferentially affected. Symptoms include: seizures, strokes, muscle weakness, blindness, diabetes, and hearing loss. In addition to defining novel mtDNA abnormalities in patients with mitochondrial disorders, we are interested in understanding the molecular pathogenesis of these mutations. We use a full array of molecular and cell biology techniques to analyze mitochondrial gene expression both in patients' tissues and in transmitochondrial cell lines. We are particularly interested in the consequences of tRNA mutations on mitochondrial protein synthesis. Novel approaches to gene therapy for mitochondrial disorders are also being developed in our laboratory. Besides bona-fide mitochondrial diseases, we are analyzing the role of mitochondrial dysfunction in age-related neurodegenerative disorders.

32. Special: DNA Unraveled opposed to nuclear, or mendelian) genetics. mitochondrial geneticsis population genetics. Each cell contains only one nucleus but http://www.columbia.edu/cu/21stC/issue-1.3/dna-mitoch.html

The other DNA: research on mitochondrial diseases By ERIC A. SCHON and SALVATORE DIMAURO MITOCHONDRIA BACTERIUM-SIZED organelles residing in most of our cellsconvert fuel from food into the body's most biologically useful form of energy, adenosine triphosphate or ATP. Mitochondria are the only non-nuclear constituents of the cell with their own DNA (mtDNA) and machinery for synthesizing RNA and proteins. This remarkable capability reflects their descent from bacteria. The endosymbiont hypothesis, first proposed by Lynn Margulies and now widely accepted, states that early in evolution, an energy-poor cell engulfed a bacterium with far more efficient energy-producing machinery and ultimately co-opted its functions; over time, the bacteria evolved into mitochondria. (Chloroplasts, too, are endosymbionts, though they lack separate DNA.) Endosymbiosis was probably critical for the development of large multicellular organisms, including us. Only in the past seven years, with advances in cellular and molecular biology, have we appreciated the complexity of genetic mechanisms and clinical presentations in mitochondrial disorders. The history of mitochondrial disease goes back to the early 1960s, however, when Lars Ernster and Rolf Luft in Stockholm described a patient who ate voraciously yet stayed thin, sweating profusely even in winter. Ernster and Luft implicated a defect in mitochondrial energy metabolism and showed that this patient's muscle mitochondria could make only a fraction of the energy they should normally produce; the unconverted fuel was diverted into heat production. The exact cause of Luft disease (perhaps the rarest condition known: only one other patient has been found) remains unknown, but these investigators broke new ground by linking mitochondrial function defects to human disease.

33. Nature Medicine The operative word here is “review,” as the structure and function of DNAand RNA, mitochondrial genetics, cytogenetics, sexual differentiation http://www.nature.com/nm/wilma/v2n6.867429256.html

book review June 1996 Table of Contents June 1996 Volume 2 Number 6 p710 $33.95 ISBN: 0-8385-3128-8, 1996 In the preface of this new addition to the ever-expanding body of genetics literature, the authors state that they hope to serve medical students, housestaff and practicing physicians by reviewing the principles of modern medical genetics. While this book may be useful as a source of brief descriptions of various disorders with a genetic basis, the scope is too broad and the discussion not of sufficient depth for it to function alone as a primary genetics text. Similar criticisms can be made of the chapter on genetic diagnosis and gene therapy. The scope is too broad and, thus, short shrift is given to such fundamental concepts as indirect molecular testing for families at risk via linkage analysis. However, RNAse protection cleavage and denaturing gel electrophoresis are described, techniques that many clinical geneticists do not fully understand and which are not fundamental to clinical practice. Thus, the focus of this chapter could have been narrowed considerably with more thoughtful discussions of some of the key concepts. Prototype pedigrees, MIM numbers and chromosomal locations for inborn errors of metabolism, and five diagnostic cases to test diagnostic skills comprise the final section. Specific references cited within the text would have been more useful than giving MIM numbers. The diagnostic cases would be useful to medical students, housestaff, and fellows in clinical genetics not only in testing their diagnostic skills, but in preparing for exams. The lack of a glossary in the appendices is a serious omission.

34. Highlight_archive2000_mf.html 84 . mitochondrial genetics A clever way to model defects . . . 84 . mitochondrial genetics . . . and a new way to rescue them. 85 . http://www.nature.com/nrg/archive/highlight_archive2000_mf.html

ARCHIVE December 2000 Vol 1 No 3 HIGHLIGHTS PDF EVOLUTION Same rates for neighbours IN BRIEF POPULATION GENETICS Founding populations: Colombian blend? BIOINFORMATICS Mining gene expression data WEB WATCH Homophila WEB WATCH Genetic testing 1, 2, 3 PLANT GENETICS If winter comes, will flowers follow? MALARIA Resisting drugs HUMAN GENETICS New light on night blindness DEVELOPMENTAL BIOLOGY Headless Hydra get Heady CANCER The trouble with smoking SEX DETERMINATION It's a guy thing IN BRIEF November 2000 Vol 1 No 2 HIGHLIGHTS PDF LINKAGE DISEQUILIBRIUM Highs and lows WEB WATCH MITOCHONDRIAL GENETICS A clever way to model defects . . . MITOCHONDRIAL GENETICS . . . and a new way to rescue them IN BRIEF DISEASE SUSCEPTIBILITY That damned elusive polygene VIRAL EVOLUTION Not such a variable clock? DEVELOPMENTAL BIOLOGY Nodal signalling gets foxy WEB WATCH Golden path to genome IN BRIEF AGEING Counting the calories to immortality SPERMATOGENESIS Give me a break EVO-DEVO A leg-up for crickets October 2000 Vol 1 No 1 HIGHLIGHTS PDF HUMAN GENETICS Tuning in to perfect pitch WEB WATCH Genetics policy HUMAN GENETICS Expanding insight into myotonic dystrophy GENOME EVOLUTION Arabidopsis 4, Tomato 1

35. Nucleic Acid Research Projects and in vitro shuffling. Another line of work was in the field of humanmitochondrial genetics. In collaboration with several clinics http://www.szbk.u-szeged.hu/biochemistry/nucleic.htm

IV/1. Project: Sequence-specific DNA recognition by type II restriction endonucleases and modification methyltransferases Staff: Krystyna Slaska-Kiss Tatyana Ivanenko (Ph.D. student) Tamás Raskó (Ph.D. student) The aim of research in the group is to elucidate the molecular mechanism by which type II restriction endonucleases and modification methyltransferases recognize substrate DNA. The ultimate goal is to understand the structural basis of sequence specificity and to engineer enzymes of novel specificity Work in the group is focused on three areas: 1) DNA substrate recognition by the M.SinI and M.Sau96I DNA(cytosine-5) methyltransferases (C5-Mtases). These enzymes methylate the sequence GGA/TCC and GGNCC, respectively (the methylated cytosine underlined). M.SinI mutants displaying relaxed sequence specificity (recognizing also GGG/CCC sites) were isolated. Ongoing work involves characterization of these mutants and selection of M.Sau96I mutants with an increased level of specificity, i.e. with the capacity to methylate only one of the two original substrate sites (GGA/TCC or GGG/CCC). 2) Construction of variants of the M.SssI C5-Mtase (recognition sequence CG) which can be terminally coupled to oligonucleotides or peptide nucleic acid (PNA). The aim of the project is to explore the possibility of using M.SssI-oligonucleotide/PNA complexes to methylate specific sites determined by the sequence of the targeting oligonucleotide/PNA.. The collaborative project involving four European laboratories and three companies is funded by a grant under the 5th European Framework Programme.

36. Department Of Neurology-Fellowship Programs mitochondrial genetics / Neurodegenerative Diseases. Director, W.Davis Parker, MD The major focus of this twoyear fellowship is http://hsc.virginia.edu/medicine/clinical/neurology/training/fellowships.html

Fellowship Programs in Neurology Residents with particular clinical or research interests are encouraged to pursue specialized training for one or two years following completion of their residencies. Positions and facilities are available in the various clinical and basic science laboratories within the department and Health Sciences Center. Senior resident neurologists are aided in making arrangements for further training either at this or another institution and are urged to complete their plans early in the third year. Prospective applicants should contact the fellowship director directly. The directors' names on this page are links to their listings on our faculty page. There you will find an e-mail link and phone number for each director. You can also follow a link on that page to see the director's research interests. The department sponsors fellowships in the following areas: Critical Care Neuroscience Clinical Epilepsy/EEG/Intensive Monitoring Experimental Epilepsy Geriatric Neuropsychiatry Mitochondrial Genetics / Neurodegenerative Diseases Neuromuscular Diseases/EMG Stroke/Cerebrovascular Disease Clinical Neuropsychology (for neuropsychologists) See also: The Neuroscience Graduate Program Critical Care Neuroscience Director

37. Press Release mitochondrial genetics is improving our understanding of human evolutionand prehistoric migratory patterns. In addition, mitochondrial http://www.mitokor.com/news/release/20020409

Home About MitoKor Science News ... Press Releases Full Text Careers Contact Us Search Press Release MitoKor Publishes Extensive Human Mitochondrial Genome Sequencing Study in The American Journal of Human Genetics Establishes publicly available database of human mitochondrial genome sequences SAN DIEGO, CA (April 9, 2002) - MitoKor today announced the publication of a large, wide ranging study analyzing the mitochondrial DNA sequences of more than 500 individuals of different ethnic origins in The American Journal of Human Genetics. The study succeeded in identifying novel patterns arising from geographically distinct subpopulations, and will form the basis of ongoing investigations aimed at uncovering the association of variations in mitochondrial DNA with diseases of aging such as Alzheimer's and type 2 diabetes mellitus. The data may be accessed at http://www.mitokor.com/science/560mtdnas.php The paper entitled: 'Reduced-median-network analysis of complete mitochondrial DNA coding region sequences for the major African, Asian, and European haplogroups,' outlines a large DNA sequencing study undertaken at MitoKor in collaboration with scientists from the University of Newcastle upon Tyne, England, the VA Medical Center and University of California, San Diego, and Massachusetts General Hospital, Harvard Medical School. The study analyzed mitochondrial DNA sequence variations between ethnically diverse populations providing important information concerning human molecular evolution and population genetics. This data will also form the basis from which to understand how changes in mitochondrial DNA sequence can affect susceptibility to disease.

38. Saara Finnilä. Phylogenetic Analysis Of Mitochondrial DNA. ISBN 951-42-5567-4 CSGE proved to be an effective method for use in mitochondrial genetics, enablingus to construct an unambiguous network for the Finnish haplogroup U. Similar http://herkules.oulu.fi/isbn9514255674/

Library units Collections Databases What's new ... index.html Phylogenetic analysis of mitochondrial DNA Detection of mutations in patients with occipital stroke Saara Finnilä Department of Neurology, University of Oulu Academic Dissertation to be presented with the assent of the Faculty of Medicine, University of Oulu, for public discussion in Auditorium 8 of the University Hospital of Oulu, on March 24th, 2000, at 12 noon. University of Oulu Manuscript received 28 February 2000 Manuscript accepted 2 March 2000 Communicated by Professor Marja-Liisa Savontaus Professor Markku Savolainen UNIVERSITY OF OULU, OULU FINLAND 2000 ISBN 951-42-5567-4 URN:ISBN:9514255674 Abstract Since one systematic way of comparing mtDNA sequences is through phylogenetic analysis, a phylogenetic network for the Finnish mtDNA haplogroup U was constructed and used to identify differences in mtDNA between patients and controls. The usefulness of conformation sensitive gel electrophoresis (CSGE) for analysing differences within the coding sequence of mtDNA was also estimated. We studied mtDNA genotypes of 29 patients with occipital stroke. The aetiology of the stroke was assessed using the criteria of the Baltimore-Washington Cooperative Young Stroke Study, and migraine was diagnosed in 18 patients according to the International Headache Society criteria. Moreover, we studied the mtDNA genotypes of 42 patients with migraine and a total of 480 population controls who reported that they themselves and their mothers were healthy with respect to common clinical manifestations of mtDNA disease. The mtDNA haplogroups were detected by restriction fragment analysis and the mtDNA structures of 14 patients with occipital stroke and 43 subjects belonging to haplogroup U were examined by CSGE. The data acquired by CSGE were then used to construct a phylogenetic network for the Finnish mtDNA haplogroup U.

39. Publications By A Member Of Staff Nature Genetics 1997, 16, 222224; RN Lightowlers, PF Chinnery, DM Turnbull and N.Howell. Mammalian mitochondrial genetics heredity, heteroplasmy and disease. http://medical.faculty.ncl.ac.uk/research/publications?ident=1741

40. Faculty Research Academic Schools Contacts Faculty Of Medical The Group has many ongoing projects which focus on mitochondrial geneticsand disease. The links below will take you to the individual http://medical.faculty.ncl.ac.uk/research/groupinfo?GroupCode=MTD

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 95    Back | 1  | 2  | 3  | 4  | 5  | Next 20