61. UCSD Biochemical Genetics UCSD Biochemical genetics. A Division of Department of Pediatrics, University of California San Diego is info about our laboratory and the mitochondrial and Metabolic Disease Center http://biochemgen.ucsd.edu/

UCSD Biochemical Genetics A Division of Department of Pediatrics University of California San Diego Also associated with the Society for Inherited Metabolic Disorders , (SIMD) UCSDW3BG is a World-Wide-Web list of Biochemical Genetics laboratory services You may register to maintain your own lab's test list on UCSDW3BG. Here is info about our laboratory and the Mitochondrial and Metabolic Disease Center Links to other sites of biochemical genetic interest are also listed. Pages of useful tools and functions are being assembled here. Background: schematic of pathways of intermediary metabolism, after Alberts et al. , Molecular Biology of the Cell. Produced 22-Sep-95. Bruce A. Barshop, M.D., Ph.D. URL http://biochemgen.ucsd.edu/ bbarshop@ucsd.edu We subscribe to the HONcode principles of the Health On the Net Foundation

62. Kennell Lab mitochondrial research, especially the genetics of filamentous fungi. Includes information describing mitochondrial genomes, mutants, extrachromosomal plasmids, and nuclear genes involved in mitochondrial function. http://pages.slu.edu/faculty/kennellj/index.html

Welcome to the Introductory page for Jack Kennell and lab co-workers at Saint Louis University. We are interested in all things mitochondrial, especially mitochondrial genetics of filamentous fungi. Within this website you can find information describing fungal mitochondrial genomes, mutants, extrachromosomal plasmids, as well as nuclear genes involved in mitochondrial function. Particular emphasis is placed on the ascomycete, Neurospora crassa. The site is divided into three major areas: Mitochondrial Genomes and Mutants Mitochondrial Plasmids Nuclear-Mitochondrial Interactions Fungal Respiratory Pathways The production of ATP coupled to electron transport is an invariant feature of mitochondria. In animal mitochondria, the respiratory chain begins with electrons being transferred from NADH to complex I (NADH:ubiquinone oxidoreductase) or from the tricarboxylic acid cycle intermediate succinate to complex II (succinate:ubiquinone oxidoreductase). Electrons are transferred via ubiquinones, complex III (ubiquinol:cytochrome c oxidoreductase), cytochrome c, complex IV (cytochrome c oxidase) and finally to molecular oxygen to give water. Although this respiratory pathway is present in most fungal mitochondria, a few fungi, such as Saccharomyces cerevisiae and Schizosaccharomyces pombe , lack complex I. More commonly, however, fungi have additional components, such as alternative NADH dehydrogenases and/or an alternative terminal oxidase (reviewed by Joseph-Horne et al. 2001).

63. The Mitochondrial Web Site genetics, biochemistry and functions of mitochondria in cell life, in diseases, apoptosis to death, in English and French. http://members.aol.com/christofmorin

Diseases Genetics Vestige of an archeobactery which has been progressively inserted in the cell during the evolution, mitochondria are small organits (1 µm of diametre). Their number fluctuates between 500 to 2000 according to the specialisation and the energetic needs of the cell. Mitochondria are composed of two membranes, the matrix, and about ten copies of their own DNA (mtDNA). For a long time the lone function of mitochondria was thought to supply energy to the cell (ATP) produced by the respiratory chain in the inner membrane by using oxygen. The progress in the understanding of mitochondrial energetic has caused alternative mitochondrial functions to be ignored. In the last 10 years, the discovery of pathologies where mitochondrial deficiencies were involved, and the control that mitochondria exert over life and death decisions in the cell have increased the interest in mitochondria. Thus, numerous laboratories undertook studies in order to understand the real role played by mitochondria in those phenomenon, and to bring forth new therapies in the treatment of diseases associated with mitochondrial dysfunctions. Future designed by Christophe Morin Contact me Forward Reference My publications

64. Robert Guthrie Biochemical Genetics Laboratory Diagnostic testing for inborn errors of metabolism with an emphasis on metabolic myopathies and mitochondrial diseases. Includes printoff forms and research updates. http://www.rgbgl.org/

The Robert Guthrie Biochemical Genetics Laboratory performs over 3,000 esoteric diagnostic tests annually for inborn errors of metabolism with a particular emphasis on the metabolic myopathies and mitochondrial disease. The laboratory is associated with the Women's and Children's Hospital of Buffalo, a division of Kaleida Health System.

65. Mitokor Publishes Human Mitochondrial Genome Sequencing Study - American Journal MitoKor publishes a large, wide ranging study analyzing mitochondrial DNA sequences of more than 500 individuals of different ethnic origins in The American Journal of Human genetics. The study http://www.eurekalert.org/pub_releases/2002-04/nc-mph040402.php

Public release date: 9-Apr-2002 Contact: Ruey-Li Hwang r.hwang@noonanrusso.com Noonan/Russo Communications Mitokor publishes human mitochondrial genome sequencing study - 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.

66. Mitochondrial Proteins mitochondrial Proteins / genetics. MitoDrome. The MitoDrome database aims to annotate Drosophila melanogaster nuclear genes that code http://bioresearch.ac.uk/browse/mesh/C0949610L1877726.html

low graphics Mitochondrial Proteins Mitochondrial Proteins Mitochondrial Proteins / genetics broader: Proteins other: Apoproteins Bacterial Proteins Blood Proteins Carrier Proteins ... Viral Proteins Mitochondrial Proteins Nomenclature of electron-transfer proteins "Nomenclature of Electron-Transfer Proteins" is published by the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology (NC-IUBMB). Sections covering the tpoic include: General Introduction; Flavoproteins; Proteins Containing Reducible Disulphide; Cytochromes A; Non-Heme Iron Proteins; Copper Proteins; Molybdenum Proteins; Nickel Proteins; Vanadium Proteins; Quinoproteins; Metal-Substituted Metalloproteins; and References. Made available on the Web by the Department of Chemistry, Queen Mary University of London. Terminology [Publication Type] Mitochondrial Proteins Electron Transport / enzymology Carrier Proteins Mitochondrial Proteins / genetics MitoDrome The MitoDrome database aims to annotate Drosophila melanogaster nuclear genes that code for mitochondrial proteins in order to contribute to the functional characterisation of nuclear genes coding for mitochondrial proteins and to the knowledge of gene diseases associated with mitochondrial dysfunctions. The data are organised in tables under the following functional classifications: oxidative phosphorylation, carbohydrate metabolism, metabolism of complex lipids, protein synthesis and protein destination. Made available on the Web by the Institute of Biomedical Technology, Universita of Bari, Italy.

67. Mitochondria Mitochondria. Illustrated notes on mitochondrial architecture, transport and genetics aimed at students. Mitochondria / genetics. http://bioresearch.ac.uk/browse/mesh/C0026237L0026237.html

low graphics Mitochondria Mitochondria Mitochondria / genetics broader: Organelles Subcellular Fractions other: Cell Nucleus Endoplasmic Reticulum Golgi Apparatus Ribosomes ... Vault Ribonucleoprotein Particles Mitochondria MITOMAP : a human mitochondrial genome database MITOMAP is a compendium of polymorphisms and mutations of the human mitochondrial DNA. Sections include the human mitochondrial sequence, mitochondrial human genome report, and mitochondrial references. Pages focusing on mitochondrial polymorphisms, substitutions, deletions, insertions and complex rearrangements are updated regularly. Information is also given on upcoming conferences relevant to researchers in this field. MITOMAP is provided by the Center for Molecular Medicine, Emory University, Atlanta, USA. Mitochondrial Myopathies Mitochondria Genome, Human DNA, Mitochondrial ... Yeast mitochondrial protein database The Yeast Mitochondrial Protein Database (YMPD) is a compilation of information concerning budding yeast mitoproteins, that is, proteins of Saccharomyces cerevisiae that are "encoded within the mitochondrial genome (mtDNA), encoded within the nuclear genome and after synthesis imported into the mitochondria, or encoded within the nuclear genome and having an extra-mitochondrial (nuclear or cytoplasmic) role connected with mitochondrial biogenesis or function". A summary of the information contained within the site is provided, along with a page decribing "how to use" the YMPD. Developed by Tom Plasterer, Temple Smith and Scott Mohr of the BioMolecular Engineering Research Center (BMERC) in the College of Engineering at Boston University.

68. THE MERCK MANUAL, Sec. 21, Ch. 286, General Principles Of Medical mitochondrial DNA Abnormalities. Cancer genetics. Immunogenetics. The genetic information is carried in the DNA of the chromosomes and mitochondria. http://www.merck.com/mrkshared/mmanual/section21/chapter286/286a.jsp

69. Clinical Genetics And Mitochondrial Disorders 1719 March 2003 /(14- 16 Muharram 1424). http://www.kfshrc.edu.sa/symposia/html/clinical_genetics_and_mitochon.html

Symposium 17-19 March 2003 /(14- 16 Muharram 1424) Introduction Message Committees and speakers Call for Abstracts Registration Forms Acknowledgments The Organizing Committee acknowledges the assistance and support of this Conference by the staff of Academic Affairs and Postgraduate Education, Photographics, Audiovisual, Print Shop, Transportation, Food Services, Public Relations, Media Affairs, Safety Security and Communications, Environmental Services, Housing, Utilities and Maintenance, Manpower Services, Materials Management and the Social Club. Certificate of Attendance: Certificates will be available upon receipt of a completed evaluation form. Smoking Policy: King Faisal Specialist Hospital and Research Center recognizes the negative implications of smoking. The policy is "No smoking" in the auditorium, exhibition area, dining areas, and restrooms. Information about CMEs: This conference is accredited by the Saudi Council for Health Specialties. The number of CMEs will be determined at a later date. Pre-registration is highly encouraged due to limited seating. If you wish to register, or need further information, please contact:

70. Mitochondrion - Wikipedia, The Free Encyclopedia Because of the unique matrilineal transmission of mitochondrial DNA, scientists in population genetics and evolutionary biology often use data from http://en.wikipedia.org/wiki/Mitochondrion

71. AllRefer Health - Genetics: Mitochondrial Dna-linked Disorders (Genetic Markers, You are here AllRefer.com Health Special Topic genetics mitochondrial dnalinked disorders. genetics. http://health.allrefer.com/health/genetics-6.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump Adolescent Development Aging Changes in Skin Alcohol Use Body Mass Index Breast Lump Self Exam Condoms, Female Condoms, Male Contraception and Family Planning Developmental milestones Diabetic Education Drug abuse Emergency Contraception Exercise/Physical Activity Fetal Development Fitness Tips Genetics Heart Disease and Women Hormone Replacement Therapy Immune Response Immunizations/Vaccinations Infant/Newborn Development Living Will Orgasmic Dysfunction Physical Exam Frequency Pregnancy Care Puberty/Adolescence Rape Recognizing Emergencies Safe Sex Safety Sexual Problems Smoking/Tobacco Use Stress Management Weight Management 500+ More Special Topics Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Special Topic Genetics : Mitochondrial dna-linked disorders Genetics Definition Description Genetic disorders Examples of single gene disorders ... Multifactorial disorders Mitochondrial dna-linked disorders Go To Main Page Alternate Names : Genetic Markers, Heredity and Disease, Heritable, Heterozygous, Homozygous, Inheritance, Inheritance Patterns

72. The Scientist :: Mitochondrial DNA Recombines are truly recombination events,” said Philip Awadalla, professor of genetics at North and lack of recombination, in particular in human mitochondrial DNA. http://www.biomedcentral.com/news/20040514/01

Previous Next Mitochondrial DNA recombines By Cathy Holding paper in Science this week that they say overturns current dogma of maternal inheritance and non-recombination. Investigating the basis for a mitchondrial myopathy in a patient described in 2002, members of Kraytsberg's group had discovered that his muscle contained about 90% paternal mtDNA carrying a detrimental mutation responsible for the disease, Khrapko told The Scientist by email. Konstantin Khrapko , the team's leader. Philip Awadalla , professor of genetics at North Carolina State University. Awadalla told The Scientist that a lot of history and dogma lies behind the notions of strict maternal inheritance and lack of recombination, in particular in human mitochondrial DNA. John Maynard Smith Adam Eyre-Walker Khrapko acknowledged that recombinants were found only in muscle, and that the work provided no evidence of inheritability of recombinants. Eyre-Walker told The Scientist sometimes referred to as Eve Links for this article Science 304:981, May 14, 2004.

73. "Mitochondrial DNA Clarifies Human Evolution" By Max Ingman his doctoral degree in medical genetics at Uppsala University, Sweden. Recently, he and his colleagues analysed the complete mitochondrial genomes of people http://www.actionbioscience.org/evolution/ingman.html

home search author directory updates signup ... education author bio Max Ingman, an Australian, is completing his doctoral degree in medical genetics at Uppsala University, S weden. Recently, he and his ... evolution investigating human evolution Mitochondrial DNA Clarifies Human Evolution By Max Ingman An ActionBioscience.org original article article highlights Recent DNA studies of several populations suggest that modern humans: originated in Africa appeared in one founding population evolved around 170,000 years ago migrated to other parts of the world to replace other hominids more on author May 2001 Mitochondrial DNA Clarifies Human Evolution By Max Ingman Mutations in human DNA are used to show relationships and evolutionary history.

74. Mitochondrial Minisymposium Announcement Get RealPlayer 5.0. Mitochondria genetics, Health, and Disease. 2 December 1998. Molecular genetics of Human mitochondrial Disease. Minisymposium Schedule. http://www-lecb.ncifcrf.gov/~zullo/mitominiDB/Flyer.html

An NIH Director’s Wednesday Afternoon Lecture Series Event Sponsor: NIH Inter-Institute Mitochondria Interest Group (MIG) A Day-long Minisymposium Download Acrobat File of the Abstract Booklet Download Rich Text Format File of the Abstract Booklet View the Abstract Booklet in your Browser Connect to Archived Video Presentation [First couple of minutes of Dr. Clayton's talk missing (intros missing also)] Viewing requires the free RealPlayer, click on button below to download! Mitochondria: Genetics, Health, and Disease 2 December 1998 Featuring The Wednesday Afternoon Lecture by Dr. Eric A. Schon (Columbia) Molecular Genetics of Human Mitochondrial Disease Minisymposium Schedule Minisymposium Attendance and Poster Registration, also Travel and Lodging Information Minisymposium Attendance and Poster Database Jack Masur Auditorium, Clinical Center, NIH For special accommodation needs call 301-594-5595 CME credit awarded $Date: 24 March, 1999 12:48:48$

75. Genetics And Genealogy: Y Polymorphism And MtDNA Analyses You traced your mitochondrial DNA through your mother, her mother, her mother, etc., and maybe the Belgian cousin did genetics Laboratories and Testing Sites. http://www.duerinck.com/genetic.html

"GENETICS AND GENEALOGY: Y Polymorphism and mtDNA Analyses", by Kevin F. Duerinck, Esq. [Revised August 30, 2003] What is a genealogist to do once he or she has traced her ancestors as far back as possible; that is, as far as the written records go? Let's talk genetics for a moment. As you may know, a person is made up of 23 pairs of chromosomes, or 46 total: half from mom, half from dad. Of these 23 pairs, a female would have a pair of XX chromosomes, which signifies the female gender. The male would have an XY pair, signifying the male gender. In males, unmatched X and Y chromosomes exchange DNA only at the ends of the two chromosomes (pseudoautosomal regions). Chromosomes are composed of DNA, which itself is composed of 4 nucleotides: A (adenine), T (thymine), C (cytosine) and G (guanine). These letters, ATCG, are the ones we follow. Currently there are 2 genetic methods of finding out if you are related to someone who may be an ancestor, whether living or deceased. The first method is "y polymorphism". In the Western culture, we have always traced our ancestors back in time by following the paternal line. In order to do this genetically, we must follow the y chromosome. Polymorphism is a term to show that mutations do occur in the Y chromosome, as can happen with other chromosomes. Note that the Y chromosome for the most part does not change (except for a small part of the pseudoautosomal regions). Different combinations of polymorphisms are known as haplotypes. Thus we are able to look at these changes and establish a genetic relationship between 2 living people (or 1 living, 1 deceased; or 2 deceased). This y polymorphism test is relatively new, and studies recording the frequency of different combinations of polymorphisms is even newer.

76. Medical Genetics - Mitochondrial Inheritance: Leber's Optic Atrophy Print Version. Medical genetics mitochondrial Inheritance Leber s Optic Atrophy. What is mitochondrial inheritance? The normal 46 http://www.musckids.com/health_library/genetics/mitochon.htm

Home About Us Departments Send an e-Card ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version Medical Genetics Mitochondrial Inheritance: Leber's Optic Atrophy What is mitochondrial inheritance? The normal 46 chromosomes in our body are contained in the center of the cell, which is called the nucleus. Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that also contain genes that are separate from the ones in the nucleus. Unlike nuclear genes, which are inherited from both parents, mitochondrial genes are inherited only from the mother. If there is a mutation in a mitochondrial gene, it is passed from a mother to all of her children; sons will not pass it on, but daughters will pass it on to all of their children, and so on. The first human disease that was associated with a mutation in mitochondrial DNA is called Leber's Hereditary Optic Neuropathy, or LHON. What is Leber's hereditary optic neuropathy (LHON)?

77. The Mitochondrial Web Site : Genetics A third feature of mtDNA genetics is a threshold expression. defects), and the relative reliance of each organ system on mitochondrial energy production. http://members.aol.com/christofmorin/genetic_eng.html

The genetics of the mtDNA differs from that of nuclear DNA in five important ways. The second feature of mtDNA genetics is that it undergoes replicative segregation during both mitosis and meiosis. Each human cell has hundreds of mitochondria and thousands of mtDNAs; this means that cells and human lineages can harbour mixtures of mutant and normal (wild-type) mtDNAs (heteroplasmy). Thus the proportion of mutant and wild-type mtDNAs that are distributed to daughter cells fluctuates when cells undergo the mitotic or meiotic process. Consequently, over repeated cell divisions, the mtDNA genotype can progressively shifts toward either a pure or a wild-type mtDNAs (homoplasmy). Thus, the percentage of mutant mtDNAs is proportional to the oxidative phosphorylation defects in the cell. Whereas heteroplasmy and replicative segregation mean that cells, or individuals with identical nuclear genotypes, can have different cytoplasmic genotypes and hence different phenotypes. A third feature of mtDNA genetics is a threshold expression. In patients harbouring mtDNA mutations, the phenotype is a product of the nature of the mutation and the percentage of mutant mtDNAs (i.e. the oxidative phosphorylation defects), and the relative reliance of each organ system on mitochondrial energy production. Contact me Home Back Forward ... Reference Fourth, mtDNA genetics have a high sequence evolution rate, about 20 times higher than the nuclear DNA, notably because mitochondria do not contain reverse transcriptase. This means that deleterious mutations are far more probable in mtDNA than in nuclear DNA, creating extensive sequence variations among individuals and populations. However, while mtDNA does not code for any DNA repair proteins, it has been observed that a number of repair factors can be found in mitochondrial extracts. Thus, this could indicate the presence of a more complex repair process in mtDNA than in nuclear DNA.

78. Molecular Biology & Genetics At Cornell University, Ithaca, New York. The development of mitochondria involves interaction of genes and their products from both the nucleocytoplasmic and the mitochondrial genetic systems. http://www.mbg.cornell.edu/fox/research.html

Thomas D. Fox, Professor Research Interests Back to Fox Home Page Back to Faculty Page Current Publications The development of mitochondria involves interaction of genes and their products from both the nucleocytoplasmic and the mitochondrial genetic systems. Yeast (Saccharomyces cerevisiae) is a very favorable organism for the study of these gene interactions, since mutations in both genetic systems can be isolated and manipulated. Furthermore, genetic transformation and homologous recombination allow the replacement of wild-type by mutant, or novel, DNA sequences in both the nuclear and mitochondrial genomes. We can express within mitochondria synthetic genes, employing the yeast mitochondrial genetic code, that specify proteins normally encoded in the nucleus. The proteins expressed from these synthetic genes provide reporters for analyzing the regulation of mitochondrial gene expression, and passenger proteins for analyzing the transport of mitochondrially translated proteins through the inner membrane. One of our synthetic mitochondrial genes encodes the Green Fluorescent Protein, allowing us to use fluorescence microscopy to observe directly mitochondrial gene expression in vivo The yeast mitochondrial gene expression system employs a novel, and surprisingly complex, mechanism for targeting translation of membrane proteins to the inner membrane. Translation of most, if not all, yeast mitochondrial mRNAs requires mRNA-specific activators. These activator proteins, coded in nuclear genes, are present inside mitochondria, associated with the inner membrane. Genetic analysis of functional interactions indicates that the activator proteins interact with the mitochondrially encoded 5' untranslated leaders of their target mRNAs. In addition, at least one of them interacts with mitochondrial ribosomes, suggesting that their role is to mediate the binding of ribosomes with their target mRNAs. Thus, translation of mRNAs encoding integral membrane proteins, such as cytrochrome

79. Keshav Singh Mitochondrial DNA Mutatioons In Aging, Disease And Keshav Singh mitochondrial DNA mutatioons in aging, disease and cancer. Landes Bioscience 1998. 157059486-4. 10903 Douglas Wallace http://felix.unife.it/Root/d-Medicine/d-Medical-genetics/b-Mitochondrial-genetic

Keshav Singh: Mitochondrial DNA mutatioons in aging, disease and cancer. Landes Bioscience 1998. 1-57059486-4. 10903 Douglas Wallace: Mitochondrien-DNA, Altern und Krankheit. Spektrum 1997/10, 70-80.

80. Genetic Defect May Point To Heredity As A Source Of Parkinson S The genes contained on mitochondrial DNA (mtDNA) exist independent of nuclear DNA. In other words, this is a new principle of human genetics that may explain http://www.pslgroup.com/dg/cf4e.htm

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