61. Kearns-Sayre Syndrom - Små Och Mindre Kända Handikappgrupper Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. Progressive increaseof the mutated mitochondrial DNA fraction in kearnssayre syndrome. http://www.sos.se/smkh/1999-29-090/1999-29-090.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Kearns-Sayre syndrom Kronisk Progressiv Oftalmoplegia Plus Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 1999-04-22 HTML-version 1.1 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom centrala nervsystemet endokrina organ muskulaturen, Diagnostik Praktiska tips Resurspersoner Dr Atle Melberg, Neurologiska kliniken, Akademiska sjukhuset, 751 85 Uppsala.

62. Zidovudine And Dideoxynucleosides Deplete Wild-type Mitochondrial kearnssayre syndrome is the most commonly diagnosed mitochondrial cytopathyand produces severe neuromuscular symptoms. http://www.aegis.com/pubs/aidsline/1996/sep/M9690840.html

Important note: Information in this article was accurate in 1996. The state of the art may have changed since the publication date. Zidovudine and dideoxynucleosides deplete wild-type mitochondrial DNA levels and increase deleted mitochondrial DNA levels in cultured Kearns-Sayre syndrome fibroblasts. Biochim Biophys Acta. 1996 May 24;1316(1):51-9. Unique Identifier : AIDSLINE MED/96239825 Wang H; Lemire BD; Cass CE; Weiner JH; Michalak M; Penn AM; Fliegel L; Department of Biochemistry, University of Alberta, Edmonton,; Canada. Abstract: Keywords: Antiviral Agents/*PHARMACOLOGY Cells, Cultured Dideoxynucleosides/*PHARMACOLOGY DNA, Mitochondrial/*METABOLISM Human Kearns Syndrome/*GENETICS/PATHOLOGY Polymerase Chain Reaction Sequence Deletion Support, Non-U.S. Gov't Zalcitabine/*PHARMACOLOGY Zidovudine/*PHARMACOLOGY JOURNAL ARTICLE National Library of Medicine . Reproduced under license with the National Library of Medicine, Bethesda, MD. Boehringer Ingelheim iMetrikus, Inc. , the National Library of Medicine , and donations from users like you. Always watch for outdated information. This article first appeared in 1996. This material is designed to support, not replace, the relationship that exists between you and your doctor.

63. ATE Responses kearnssayre syndrome (KSS) is due to large deletions in the mitochondrial DNA (singledeletions - that is, each patient has one and only one mutation) and is http://www.mdausa.org/experts/question.cfm?id=2164

64. ATE Responses The same molecular defect (mtDNA single deletion) has been associated with twoother syndromes (1) kearnssayre syndrome (KSS), which is multisystemic and http://www.mdausa.org/experts/question.cfm?id=2145

65. Syndrome Mit Netzhaut-Aderhautdystrophien Translate this page Stoffwechselerkrankungen ist eine diätetische Therapie möglich. HäufigerUsher syndrome, kearns-sayre Syndrom, Laurence-Moon-Bardet-Biedl Syndrom. http://retinadiagnostic.de/krank_kell/syndrome_index.html

aktualisiert: 27.12.2002 9 Syndrome mit Netzhaut-Aderhautdystrophien Usher Syndrom Kearns-Sayre Syndrom Laurence Moon Bardet Biedl Syndrom Refsum Syndrom ... Andere Syndrome: seltene Syndrome in alphabetischer Auflistung Usher Syndrom Genetik: Autosomal rezessiv: Mutationen in folgenden Genen: CDH23 (Typ 1d; 56%), MYO7A (Typ 1b), PCDH15 (Typ 1f), USH1C (Typ 1c), USH2A (Typ 2a), USH3A (Typ 3a) Weitere chromosomale Genlokalisationen: USH1A, USH1E, USH1G, USH2B, USH2C Hinweis: bei Mutation in einigen Genen kann auch eine Einzelsyptomatik auftreten (Familienanamnese!): Symptomatik: Klinische Befunde: Funktionelle Untersuchungen: ERG: Typ 1: erloschen, Typ 2: stark reduziert bis erloschen Besonderheiten: zum Seitenanfang Kearns-Sayre Syndrom Genetik: mitochondriale Vererbung (KSS) Symptomatik: Klinische Befunde: Funktionelle Untersuchungen: Visus: variable Reduktion EOG: normaler bis fehlender Hellanstieg Besonderheiten: zum Seitenanfang (Laurence-Moon-)Bardet-Biedl Syndrom Genetik: Autosomal rezessiv: Mutationen in folgenden Genen: BBS1, BBS2 (20%), BBS4 (3-6%), MKKS weitere chromosomale Genlokalisationen: BBS3, BBS5

66. HumanLife hypothyroidism, deafness EhlerDanlos syndrome,mitochondrial myopathy, oculo-cranio-somatic-neuromusculardisease, kearns-sayre syndrome, Ophtalmoplegia plus http://www.vency.com/InbornDiseases.html

INBORN ERRORS In 1982 the recorded number of human disorders inherited in simple mendelian fashion/caused by a mutant single gene amounts to 3,368 [McKusic, V.A., 'Mendelian Inheritance in Man', 6th ed.,Johns Hopkins Univ. Press, Baltimore, 1983] The clinical effects of the inborn errors of metabolism vary from lethality in utero or in early postnatal life, to very severe handicap [Tay-Sachs disease, Hurler's syndrome, homozzygous talassemia, Lesch-Nyan syndrome, Duchenne muscular dystrophy, Huntington's disease, etc.], to restricted life expectancy , to harmlessness. For most inborn errors, therapy is virtually nonexistent, at present. 'Of about 120,000 US babies born each year with a birth defect, 8,000 die during their first year of life......birth defects are the fifth-leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disability.' http://www.cdc.gov/nceh/cddh/BD/bdpghome.htm Most frequent clinical features of inborn diseases Apathy, ataxia

67. Research And Graduate Programs (RGP) 38. National Organization for Rare Disorders, Inc. (NORD) Request for Proposalsfor kearns-sayre syndrome. The National Organization for Rare Disorders, Inc. http://rgp.ufl.edu/fyi/back_issues/v28n12/fyi038.html

FYI Digest Newsletter Back Issues Prev Top Next publication date - 38. National Organization for Rare Disorders, Inc. (NORD) - Request for Proposals for Kearns-Sayre Syndrome The National Organization for Rare Disorders, Inc. (NORD) is accepting applications for one or two year grants for clinical research studies related to early detection and diagnosis, or treatment, of patients with Kearns-Sayre Syndrome (KSS). KSS is a rare, neuromuscular disorder characterized by three primary findings: chronic progressive external ophthalmoplegia (CPEO); atypical retinitis pigmentosa, leading to pigmentary degeneration of the retina; and cardiomyopathy. Other findings may include muscle weakness, short stature, hearing loss, and/or ataxia due to problems affecting the cerebellum. KSS belongs (in part) to mitochondrial encephalomyopathies. NORD's research grant program is designed to provide support to investigators from all disciplines of biomedical science for meritorious clinical research and development of orphan drugs, devices, biologics, diagnostics, or medical foods. A grant, not to exceed $30,000 for up to two years, will be awarded for the support of clinical research on KSS. Protocols that will study treatments such as pharmacological, devices, surgery, dietary, or diagnostic interventions will be given priority. Applicants must submit a letter of intent no later than JANUARY 31, 2001

68. CMGS-Mitochondrial Disease And Its Molecular Analysis/16.1.98 kearnssayre syndrome (KSS). In 1988 a 5-kb deletion was described in themitochondrial DNA from muscle of a patient with kearns-sayre syndrome. http://www.ich.ucl.ac.uk/cmgs/mitodis.htm

Mitochondrial disease and its molecular analysis Mitochondrial DNA The first mutations in mitochondrial DNA were discovered in 1988 and since that time a great deal of knowledge has accumulated on mitochondrial disorders. Mitochondrial DNA encodes 13 polypeptides which are integral components of mitochondrial respiratory chain essential for aerobic metabolism. In addition, mitochondrial DNA encodes 22 transfer RNA's and 2 ribosomal RNAs used in mitochondrial protein synthesis. Mitochondrial phenotypes are caused by gross structural rearrangements (single deletions, multiple deletions or duplications) or point mutations in the mitochondrial DNA. Mutations with potential to cause lethal impairment of oxidative phosphorylation (gross structural rearrangements or point mutations in critical regions) are viable only if they are heteroplasmic ( that is, the cells contain both wild type and mutant mitochondrial DNA). The majority of milder missense mutations in protein coding regions are heteroplasmic. Homoplasmy is the presence of completely mutant or completely normal mitochondrial DNA. Mitochondrial Diseases Organs highly dependent on oxidative phosphorylation such as nervous system and heart are most vulnerable to mutations in mitochondrial DNA. Some of the principal mitochondrial disorders are summarised below although there are numerous variants and subgroups known.

69. CMGS-Mitochondrial Inheritance (2)/ 16.11.99 Clinical background Patients are classified into 1 of three groups accordingto age of onset and severity of symptoms kearnssayre syndrome (KSS) is http://www.ich.ucl.ac.uk/cmgs/mt2inh99.htm

th November 1999 MITOCHONDRIAL INHERITANCE (2) Mitochondria segregation/Mitochondrial bottleneck There are several thousand mitochondria per mammalian cell and each mitochondrion has 2-10 copies of mtDNA. mtDNA is inherited from the maternal oocyte and these cells have many more mtDNA molecules than somatic cells (~100,000 copies). During oogenesis, the number of mitochondria per cell increases by 100 fold, while the number of mtDNA per mitochondrion falls to about 1 or 2. mtDNA replication probably resumes at the blastocyst stage (Howell 1992, Hammans 1993). If a new mutation arises on a single molecule, it needs to proliferate to become fixed in the population and replace the other copies. Conventionally, fixation of alleles in the nuclear genome is by recombination. The fixation rates for mtDNA is 10 times that for nuclear DNA, however, mtDNA does not undergo recombination events. One explanation is a bottle neck occurs during oogenesis. As the actual number of mtDNA molecules is exceptionally high, the bottleneck could take the form of selective amplification during oogenesis. The bottleneck theory developed from observations of heteroplasmy of polymorphic mtDNA in Holstein cows. Complete switching of the mtDNA type can occur in very few generations, even a single one, suggesting the bottleneck could be from very few or even a single mtDNA molecule.

70. Diagnosis Diagnosis kearnssayre syndrome. kearns-sayre syndrome belongs tothe so-called mithocondrial encephalopathies. The main features http://pearl.sums.ac.ir/AIM/9922/diagnosis9922.html

Diagnosis: Kearns-Sayre syndrome K earns-Sayre syndrome belongs to the so-called mithocondrial encephalopathies. The main features in the disorder are defective oxidative phosphorylation and structural abnormalities of the mithocondrion. The problem with Kearns-Sayre syndrome is believed to originate from a mutation in either ovum, or the somatic cells early in the embryonic period. The disease almost never presents with a familial pattern. The disease is manifested prior to the age of 20, and is associated with progressive paralysis of the extrinsic ocular muscles and pigmentary retinopathy. The protein level of the cerebrospinal fluid (CSF) is usually in excess of 100 mg/dl. CSF lactate dehydrogenase and pyruvate levels, are high without any signs and symptoms. The syndrome is also associated with cardiac blocks. Several clinical presentations, including short stature, hearing loss and diabetes mellitus, may occur in this syndrome. Due to a defect in the cellular respiration, mithocondria proliferate and cause ragged red fibers in the muscle. Most of the patients develop spongy encephalopathy which ultimately results in death. F. Ashtari, M.D.

71. Case Vignettes In Neurology kearnssayre syndrome. The kearns-sayre syndrome is caused by a deletionin the mitochondrial DNA which usualy occurs in the zygote. http://medocs.ucdavis.edu/neu/420/cases/cases99/CASE12.HTM

Case Index PATIENT CASE STUDIES Case 12 2/23/99 Myopathy Case discussion This 18-year old female was evaluated for ophthalmoplegia and progressive muscle weakness. At the age of 6 years she was noted to have a squint and was given glasses. At seven she complained of double vision that gradually resolved. She did reasonably well until her early teens when she found herself unable to compete with other children at play. Approximately one year prior double vision recurred. For the past 6 months she complained of progressive generalized weakness and has difficulty rising from a seated to standing position. Summarize the Case in 1-2 sentences. 18 year-old female presents with progressive external opthalmoplegia of 12 years, progressive proximal muscle weakness for the last six months, pigmentary degeneration of the retina, and an incomplete heart block apparent on examination. In addition, ataxia, short stature, and ptosis were noted, although fatiguability, mental status changes, and family history were all absent. good, a bit on the long side

72. William J. Lipham, MD - Eye Conditions - Kearns-Sayre Syndrome William J. Lipham, MD. Home Conditions kearnssayre syndrome, http://drlipham.eyemdlink.com/Condition.asp?ConditionID=259

73. Special: DNA Unraveled For example, large numbers of mtDNA deletions in heart, muscle, and brain becomefatal in young adulthood (kearnssayre syndrome), while large numbers of the 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.

74. HOPES Glossary, K K. kearnssayre syndrome - A rare mitochondrial disorder that usuallyonsets before the age of 20. kearns-sayre syndrome is characterized http://www.stanford.edu/group/hopes/sttools/gloss/k.html

HOPES Glossary Note: Some words can have differing definitions depending on the context in which they are used. The definitions presented here are the ones that best apply to the words as they are used on the HOPES site. A B C D ... Z K Kearns-Sayre syndrome - A rare mitochondrial disorder that usually onsets before the age of 20. Kearns-Sayre syndrome is characterized by progressive paralysis of the eye muscles and mild skeletal muscle weakness. knockout - Refers to an organism that has a particular gene or trait purposely removed by selective breeding or laboratory techniques (e.g. a huntingtin knockout mouse). knock out - The process of purposely removing a particular gene or trait from an organism. krebs cycle - A series of chemical reactions involved in aerobic respiration that occurs naturally in animals. Also referred to as the citric acid cycle Last Modified: 9-18-02 An educational product of HOPES, not to be used in place of medical care. For more information about HOPES, click on the Logo. To contact HOPES with comments or questions, click

75. Peter Sneed, MD - Eye Conditions - Kearns-Sayre Syndrome Peter Sneed, MD. Home Conditions kearnssayre syndrome, http://psneed.eyemdlink.com/Condition.asp?ConditionID=259

76. WebGuest - Open Directory : Health : Conditions And Diseases : Neurological Diso NINDS kearnssayre syndrome - Information sheet compiled by the NationalInstitute of Neurological Disorders and Stroke. Last update http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Neurologi

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Ophthalmoplegia/Kearns_Sayre_Syndrome Top Health Conditions and Diseases Neurological Disorders ... Ophthalmoplegia : Kearns Sayre Syndrome See also: Health: Conditions and Diseases: Rare Disorders Sites: Emergency Medicine - An introduction to chronic progressive external ophthalmoplegia. Includes clinical features, work up, treatment and follow up. NINDS Kearns-Sayre Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke. Last update: 5:34 PT, Tuesday, April 23, 2002 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

77. Mitochondrial Disorders kearnssayre syndrome. Infancy Low birth weight; Death; Metabolic lactic acidosis;May precede development of kearns-sayre syndrome if survival past infancy. http://www.neuro.wustl.edu/neuromuscular/mitosyn.html

Front Search Index Links ... Patient Info MITOCHONDRIAL DISORDERS Biochemical Pathways Fatty acid oxidation Oxidative phosphorylation Mitochondria Mitochondrial DNA (mtDNA) General Features Mutations Nuclear encoded proteins General Features Mutations Mitochondrial disorders Biochemical classification ... Clinical syndromes Evaluation Clinical Signs Laboratory General mechanisms Mutation types ... Pathology Intense SDH staining of a muscle fiber with mitochondrial proliferation Mitochondrial DNA (mtDNA): General features Differences from Nuclear DNA Inheritance mtDNA variation ... Structure Structure Double-stranded, circular molecule: Except for D-loop which is triple stranded (Contains extra 7S DNA) 16,569 nucleotide pairs Copies 2 to 10 in each mitochondrion Strands Heavy (H) strand: Rich in guanines; 28 genes Light (L) strand: Rich in cytosines; 9 genes mtDNA encodes for 37 genes Peptides Encodes 13 of mitochondrial peptide subunits All 13 peptides are in mitochondrial respiratory-chain complex (OXPHOS) rRNAs: 2 tRNAs: 22; Located between every 2 rRNA or Protein coding genes Other mitochondrial proteins encoded by nuclear DNA Inheritance of mtDNA Maternal Sperm mtDNA is actively degraded Promoters: Controlled by nucleus 3 Promoters H1: H-strand; Produces complete symmetric transcription of heavy strand of mtDNA

78. References CPEO, chronic progressive external ophthalmoplegia; KSS, kearnssayre syndrome;LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy http://www.medscape.com/content/2001/00/41/08/410870/410870_tab.html

79. Richard L. Lindstrom, MD - Eye Conditions - Kearns-Sayre Syndrome Richard L. Lindstrom, MD. Home Conditions kearnssayre syndrome, http://drlindstrom.eyemdlink.com/Condition.asp?ConditionID=259

80. Kearns-Sayre Syndrome Patient/Family Resources kearnssayre syndrome Patient/Family Resources. Mitochondrial Myopathies Accessdocument. Miscellaneous kearns-sayre syndrome Patient/Family Resources http://www.slis.ua.edu/dls/uab/healthinfonet/patientinfo/metabolism/inborn/mitoc

Patient/Family Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Kearns-Sayre Syndrome Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Mitochondrial Myopathies: Access document Miscellaneous Kearns-Sayre Syndrome Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Mitochondrial Disorders: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed. YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

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