21. 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 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.

22. - Phonebook (University Of Miami) Click on a heading or person s name below for more information Neurology, Department of. mitochondrial genetics, (305) 2435858. Lois Pope Life Center (Map). http://www.miami.edu/UMD/CDA/UMD_Department_View/1,3221,310260015,00.html?prim=3

23. UTMB Department Of Human Biological Chemistry & Genetics (HBC&G) Pivotal but controversial - issues within the broad area of mitochondrial genetics include the processes by which mtDNA mutations, including those that are 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.

24. Mitochondrial Inheritance - Parents - Boys Town National Research Hospital This article will give a short introduction to mitochondrial genetics, and outline the spectrum of clinical presentations of mitochondrially determined hearing http://www.boystownhospital.org/parents/info/genetics/mito.asp

Genetics and Deafness - Mitochondrial Inheritance and Hearing Loss by Nathan Fischel-Ghodsian, M.D. Nearly all of our genes can be found in the nucleus of the cell on one of the 23 chromosome pairs. However there are other genes on the tiny chromosomes in the mitochondria of the cell. Recently, mutations in these mitochondrial chromsomes have been found to be associated with a variety of hearing defects. This article will give a short introduction to mitochondrial genetics, and outline the spectrum of clinical presentations of mitochondrially determined hearing impairments. Normal Mitochondrial Genetics - Mitochondrial DNA is transmitted exclusively through mothers, with sperm apparently contributing no mitochondrial DNA to the zygote. This leads to the expectation that a defect in a mitochondrial gene should lead to disease equally in both sexes, but can only be transmitted through the maternal line. These basic rules of mitochondrial genetics are complicated by at least four factors:

25. Mitochondrial DNA clear that mtDNA has become a powerful too for analyzing relationships in humans and other animals, and that the influence of mitochondrial genetics on human http://biocrs.biomed.brown.edu/Books/Essays/MitochondrialDNA.html

The Fire Within: The Unfolding Story of Human Mitochondrial DNA Introduction: Nearly every cell of the human body contains scores of mitochondria, tiny organelles that play a key role in releasing cellular energy. Every student of biology learns (some more willingly than others) that mitochondria are home to a complex series of biochemical pathways, including the Krebs cycle and the electron transport chain (see pp. 123-131 in Biology by Miller and Levine). Mitochondria have always been interesting, ever since they were first recognized as important subcellular organelles by Altmann in 1890. He called them "bioblasts," and suggested that they might be tiny independent organisms within eukaryotic cells. He was wrong about that, but not quite as wrong as biologists once believed. When sugars are broken down to release energy, most first enter a pathway in the cytoplasm known as glycolysis which produces a modest amount of adenosine triphosphate ATP. The end product of that pathway, pyruvate, enters the mitochondrion and then proceeds into the Krebs cycle. The reactions of the cycle systematically strip high-energy electrons away from the intermediates of the cycle, and these electrons enter the electron transport pathway, which is bound to the inner mitochondrial membrane. The oxygen we breathe serves as the final electron acceptor of the chain. As Peter Mitchell showed, this electron flow produces a proton gradient across the membrane which, like the pressure of water against a dam, can be used to generate energy. The proton "pressure" across the inner mitochondrial membrane produces not electricity but chemical energy in the form of ATP.

26. "Information Resources On Elephants" Descriptors mitochondrial genetics, DNA, sequence analysis, elephants genetics. Descriptors mitochondrial genetics, DNA, subspecies, African elephant. http://www.nal.usda.gov/awic/pubs/elephants/afgene.htm

Genetics / DNA The evolution and phylo geography of the African elephant inferred from mitochondrial DNA sequence and nuclear microsatellite markers. Eggert, Lori S.; Rasner, Caylor A.; Woodruff, David S. Proceedings of the Royal Society Biological Sciences Series B, Oct. 2002, v. 269 (1504), p. 1993-2006. ISSN: 0962-8452. NAL call no: 501 L84B Descriptors: biochemistry and molecular biophysics, population studies. On the evolutionary genetics of tusks in Asian elephants (Elephas maximus): Model predictions and evidence from elephant breeding. Tiedemann, R.; Kurt, F.; Mar, K.U. Advances in Ethology, 2002, v. 37, p. 105. ISSN: 0931-4202. NAL call no: 410 Z35B Descriptors: tusk, dental, evolutionary genetics, sexual selecetion. Patterns of molecular genetic variation among African elephant populations. Molecular Ecology, Dec. 2002, v. 11 (12), p. 2489-2498. ISSN: 0962-1083. NAL call no: QH540.M64 Descriptors: genetic diversity, molecular genetic variation, species affiliation. Comparative cytogenetics of the African elephant (Loxodonta africana) and Asiatic elephant (Elaphus maximus).

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

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

28. UCSD Biochemical Genetics Staff geneticist. His research activities include disorders of amino acid and organic acid metabolism, as well as mitochondrial genetics. He http://biochemgen.ucsd.edu/staff.htm

UCSD Biochemical Genetics Staff and Personnel Jan Panyard-Davis, R.N. Cristal Melendez Bruce A. Barshop, M.D., Ph.D. Richard H. Haas, M.D. ... Jennifer Gwynne, R.D. Jan Panyard-Davis, R.N. is the clinical nurse-coordinator for the Division. She is generally the first contact for patients and their families. She can be reached by phone at or by email at jpanyard@ucsd.edu Cristal Melendez is the administrative assistant for the Division. She is in charge of coordinating visit dates and authorizing financial arrangements. She can be reached by phone at or by email at cmelendez@ucsd.edu William Nyhan, M.D., Ph.D. is the head of the Division of Biochemical Genetics and former, founding Chairman of the Department of Pediatrics at UCSD. He can be reached by email at wnyhan@ucsd.edu or by voice at Bruce Barshop, M.D., Ph.D. , Co-Director of the Biochemical Genetics Laboratory, is a pediatrician and clinical biochemical and molecular geneticist. His research activities include disorders of amino acid and organic acid metabolism, as well as mitochondrial genetics. He can be reached by e-mail at bbarshop@ucsd.edu

29. Chlamydomonas Quesada. 34. mitochondrial genetics Claire Remacle and René F. Matagne. 35. Chlororespiration, Sixteen Years Later Pierre Bennoun. 36. http://photoscience.la.asu.edu/photosyn/books/chlamy.html

The Molecular Biology of Chloroplasts and Mitochondria in Chlamydomonas Edited by S. Merchant, University of California, Los Angeles The Molecular Biology of Chloroplasts and Mitochondria in Chlamydomonas Contents and Contributors: 1. Introduction to Chlamydomonas Elizabeth H. Harris 2. Perspectives on Early Research on Photosynthesis in Chlamydomonas Robert K. Togasaki and Stefan J. Surzycki 3. Organization of the Nuclear Genome Carolyn D. Silflow 4. Nuclear Transformation: Technology and Applications Karen L. Kindle 5. Modes and Tempos of Mitochondiral and Chloroplast Genome Evolution in Chlamydomonas: A Comparative Analysis Aurora M. Nedelcu and Robert W. Lee 6. Uniparental Inheritance of Chloroplast Genomes E. Virginia Armbrust 7. Replication, Recombination, and Repair in the Chloroplast Genetic System of Chlamydomonas Barbara B. Sears 8. Chloroplast Transformation and Reverse Genetics Michel Goldschmidt-Clermont 9. Chloroplast RNA Stability 10. Chloroplast RNA Synthesis and Processing David B. Stern and Robert G. Drager 11. RNA Splicing in the Chloroplast

30. Phylogenetic Analysis Of Mitochondrial DNA CSGE proved to be an effective method for use in mitochondrial genetics, enabling us to construct an unambiguous network for the Finnish haplogroup U. Similar http://herkules.oulu.fi/isbn9514255674/html/

Phylogenetic analysis of mitochondrial DNA Detection of mutations in patients with occipital stroke Saara Finnil¤ Department of Neurology 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. CSGE proved to be an effective method for use in mitochondrial genetics, enabling us to construct an unambiguous network for the Finnish haplogroup U. Similar phylogenetic networks are required for the purposes of both medical genetics and population genetics. Such networks were found to be helpful in deciding between a rare polymorphism and a pathogenic mutation in patients with occipital stroke. Likewise, they enabled more detailed comparisons to be made between and within populations and allowed more accurate phylogenetic relationships to be determined.

31. The Scientist :: Mitochondria Are Transferred The primary focus was being able to demonstrate we have the technologies to modify mitochondrial genetics,” said Carl Pinkert, professor of Pathology and http://www.biomedcentral.com/news/20040130/01/

Previous Next Mitochondria are transferred By Cathy Holding Despite the importance of the mitochondria in disease , suitable mouse models to study mitochondrial dysfunction have proved difficult to generate because classical genetic techniques cannot be applied to the thousands of individual mitochondria in a single cell. Now, a team of researchers reports the introduction of these organelles from one mouse species into another, generating a mitochondrial mutant model that could be used to elucidate mitochondria-related disease mechanisms. In the January 26 PNAS , Matthew McKenzie and colleagues at the University of Melbourne PNAS, DOI:10.1073/pnas.0303184101, January 26, 2004). The Scientist The Scientist The Scientist Links for this article Journal of Laboratory and Clinical Medicine, 1423:141-148, September 2003. PubMed Abstract Current Medicinal Chemistry, 10:2523-2533, December 2003. PubMed Abstract PNAS, DOI:10.1073/pnas.0303184101, January 26, 2004. http://www.pnas.org/cgi/content/abstract/0303184101v1 University of Melbourne http://www.unimelb.edu.au/

32. Muscular Dystrophy Campaign Mitochondrial Myopathies Written by Joanna Poulton, Reader and Honorary Consultant in mitochondrial genetics, Nuffield Dept Obstetrics and Gynaecology, The Womens Centre, John http://www.muscular-dystrophy.org/information/keyfacts/mytomyop.html

@import "../../css/cssstyle.css"; Receive copies of Target MD Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell Mitochondrial Myopathies February 2001 Written by Joanna Poulton, Reader and Honorary Consultant in Mitochondrial Genetics, Nuffield Dept Obstetrics and Gynaecology, The Womens Centre, John Radcliffe Hospital, Oxford Prof.L.Bindoff,Dept.Neurology,Hauleland,Sykehus,Bergen,Norway What are mitochondrial myopathies? Mitochondrial myopathy is a collective term for a group of diseases that particularly affect muscle, but which may also affect every other part of the body including the brain and the eye. Other names for these diseases include: Kearns-Sayre Syndrome (KSS), Chronic Progressive External Ophthalmoplegia (CPEO), Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonus Epilepsy Associated With Ragged-Red Fibres (MERRF), Leigh's disease, and Mitochondrial Cytopathy. Why do I have it? Our bodies are made up of many different tissues, for example muscle, nerve, and liver. Each tissue is composed of small 'building blocks', called cells, and within each cell are small objects known as mitochondria. The job of these mitochondria is to produce energy. Just like a power generator, they take in fuel (the food we eat) and burn it up to generate energy. If this process fails, the cell cannot function adequately and this can lead to disease. Muscle and brain require a lot of energy, and are often the most severely affected.

33. NeuroCAST - Genetics And Diagnosis Of Mitochondrial Disorders This article is a brief review of mitochondrial genetics, disorders, and their diagnosis for neurologists, geneticists, genetic counselors, and other http://www.neurocast.com/site/content/sessions_02_2002.asp

Mitochondria are the intracellular organelles that supply most of a cell's energy needs by producing adenosine triphosphate (ATP) through oxidative phosphorylation. More recently, mitochondria have also been found to play a central role in programmed cell death, or apoptosis. In addition to these well-known tasks, mitochondria are also responsible for a variety of other metabolic functions specific to the almost 250 different cell types in the human body. Mitochondria are unique organelles in that they contain their own DNA (mtDNA), which is distinct from the DNA in the cell nucleus (nDNA). Thus, proper mitochondrial function depends on the coordinated expression of both the nuclear and mitochondrial genomes and therefore, mitochondrial dysfunction can arise from mutations in either genome (Figure 1). This article is a brief review of mitochondrial genetics, disorders, and their diagnosis for neurologists, geneticists, genetic counselors, and other healthcare professionals involved in the care of people with complex neurological diseases that may be due to mitochondrial dysfunction. Figure 1.

34. Gnist.no: Fagbokhandelen På Internett Genetics of Mitochondrial Diseases av HOLT, IAN This text summarises the advances in human mitochondrial genetics made at the end of the 20th century. http://www.gnist.no/kategori.php?varenummer=1518287&side=MFN

35. Department Of Neurology-Fellowship Programs mitochondrial genetics / Neurodegenerative Diseases; Neuromuscular Diseases/EMG; NeuroOncology; mitochondrial genetics / Neurodegenerative Diseases. http://www.healthsystem.virginia.edu/Internet/neurology/training/fellowships.cfm

Department of Neurology Overview Training Programs Referring Physicians ... Site Index Search this site: 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 Neuro-Oncology Stroke/Cerebrovascular Disease Clinical Neuropsychology (for neuropsychologists) See also: The Neuroscience Graduate Program Critical Care Neuroscience Director

36. Mitochondrial DNA And OXPHOS Disorders Given the complexity of mitochondrial genetics and biochemistry, the clinical manifestations of mitochondrial disorders are extremely heterogeneous. http://www.eurekah.com/abstract.php?chapid=1517&bookid=123&catid=15

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

38. Poulton Et Al., Mitochondrial Genetics '98 http://www.journals.uchicago.edu/AJHG/journal/issues/v62n4/980112/980112.html

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39. Centrum Bunecne Terapie A Tkanovych Nahrad - Seminare 24.10.2000, 1500, mitochondrial genetics AND DISEASE, Dr. Denise Brown, Ustav neuroved, UK PrF, Vinicna 7, Poslucharna FOTOCHEMIE. Program NEUVEDEN http://www.medicon.cz/cgi-bin/cbt/semview.pl?filename=200010241500_97483439435

40. Lesson 9 Bioanthropology Using Mitochondria To Study Movement Of in humanity. The use of mitochondrial genetics, technology, and a true hero of science are presented in literature. This hero of http://caldera.calstatela.edu/hgp/Student/UNIT_III/L9-Bioanthropology.html

Lesson 9: Bioanthropology: Using Mitochondria to Study Movement of People to the Americas TITLE: Bioanthropology: Using Mitochondria to Study Movement of People to the Americas AUTHOR: Mary Ann Sesma, Bell High School, Bell California 90201 GRADE LEVEL: Ninth and Tenth Grade Biology and Life Science Classes, or Advanced Placement Biology, Limited English Proficient (LEP), Fluent English Proficient (FEP), English Only (EO). May possibly be used in concurrent Social Studies, Anthropology and possibly Earth Science classes. OVERVIEW: There is substantive archeological, anthropological, that provides evidence that man evolved in Africa, and then moved into the Northern European continent. There is ample evidence that when the Ice Age ended or slowed down, people were able to move between Asia and North America. The Americas were the last to be populated as a result of humans who moved across the Bering Sea on a land/ice bridge (the Bering Land Bridge) into North America into an area which is now called Berengia. Using the theory of Wallace (cited literature), a small bands of humans crossed this bridge and are responsible for four separate lines of mitochondrial inheritance in North American indigeneous people. The role of science, technology and human issues is explored. OBJECTIVES: Concepts: When the Ice Age was dwindling there was the ability of people leave Asia and inhabit the North American continent.

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