81. High CSF Lactate And Pyruvate Content In Kearns-Sayre Syndrome -- Kuriyama Et Al High CSF lactate and pyruvate content in kearnssayre syndrome. M Kuriyama, M Suehara, N Marume, M Osame and A Igata. We studied lactate and pyruvate http://www.neurology.org/cgi/content/abstract/34/2/253

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Kuriyama, M. Articles by Igata, A. ARTICLES High CSF lactate and pyruvate content in Kearns-Sayre syndrome M Kuriyama, M Suehara, N Marume, M Osame and A Igata We studied lactate and pyruvate concentrations in CSF and blood of a patient with Kearns-Sayre syndrome (KSS), 3 patients with ocular myopathy and 11 normal control subjects. We found significant elevation of lactate and pyruvate in the CSF of the patient with KSS, suggesting a disorder of CNS lactate-pyruvate metabolism. HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS

82. Juvenile Kearns-Sayre Syndrome Initially Misdiagnosed As A Psychosomatic Disorde Juvenile kearnssayre syndrome initially misdiagnosed as a psychosomatic disorder We therefore conclude that this patient has developed the kearns-sayre http://jmg.bmjjournals.com/cgi/content/abstract/31/1/45

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Norby, S. Articles by Warburg, M. Journal of Medical Genetics, 1994, Vol 31, 45-50 ARTICLES Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder S Norby, P Lestienne, I Nelson, IM Nielsen, H Schmalbruch, O Sjo and M Warburg Institute of Forensic Genetics, University of Copenhagen, Denmark. We have investigated a 15 year old girl with progressive external ophthalmoplegia, including bilateral ptosis and retinal rod and cone cell dysfunction with atypical retinal pigmentation, complicated by cerebellar

83. Identical Large Scale Rearrangement Of Mitochondrial DNA Causes Kearns-Sayre Syn Keywords kearns–sayre syndrome; large scale rearrangement; mitochondrial DNA; mitochondrial disease; mtDNA deletion http://jmg.bmjjournals.com/cgi/content/extract/40/11/858

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Puoti, G Articles by Zeviani, M Journal of Medical Genetics LETTER TO JMG Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son G Puoti F Carrara S Sampaolo M De Caro C M Vincitorio F Invernizzi and M Zeviani Department of Neurosciences, School of Medicine, Federico II State University, Naples, Italy Division of Anesthesiology, Public General Hospital, Mercato San Severino (SA), Italy Correspondence to: Dr M Zeviani Division of Molecular Neurogenetics, National Neurological Institute Carlo Besta, via Temolo 4, 20126 Milan, Italy; zeviani@tin.it

84. NEJM -- Mitochondrial DNA Deletions In Progressive External Ophthalmoplegia And What Is kearnssayre syndrome After All?. Arch Neurol 58 1053-1054 Full Text; Sharma, NK, Gujrati, M, Kumar, J, Kattah, JC (2002). http://content.nejm.org/cgi/content/abstract/320/20/1293

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 320:1293-1299 May 18, 1989 Number 20 Next Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome CT Moraes, S DiMauro, M Zeviani, A Lombes, S Shanske, AF Miranda, H Nakase, E Bonilla, LC Werneck, S Servidei, and et al. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY 10032. This article has been cited by other articles: Barragan-Campos, H. M., Vallee, J.-N., Lo, D., Barrera-Ramirez, C. F., Argote-Greene, M., Sanchez-Guerrero, J., Estanol, B., Guillevin, R., Chiras, J. (2005). Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies. Arch Neurol [Abstract] [Full Text] Remes, A. M., Majamaa-Voltti, K., Karppa, M., Moilanen, J. S., Uimonen, S., Helander, H., Rusanen, H., Salmela, P. I., Sorri, M., Hassinen, I. E., Majamaa, K. (2005). Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology [Abstract] [Full Text] Michaelides, M, Moore, A T (2004). The genetics of strabismus.

85. Mapping Of Heteroplasmic Mitochondrial DNA Deletions In Kearns-Sayre Syndrome. kearnssayre syndrome (KSS) is a progressive neuromuscular disease characterised by Deletions of mitochondrial DNA in kearns-sayre syndrome. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=334951

86. Spontaneous Kearns-Sayre/chronic External Ophthalmoplegia Plus Syndrome Associat Lestienne P, Ponsot G. kearnssayre syndrome with muscle mitochondrial DNA deletion. Lancet. Deletions of mitochondrial DNA in kearns-sayre syndrome. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=2554297

87. ICON Health Publications -- Home Page OPHTHALMOPLEGIA PLUS syndrome related to kearnssayre syndrome OPHTHALMOPLEGIA PLUS syndrome related to MITOCHONDRIAL MYOPATHIES http://www.icongrouponline.com/health/healthO.html

ICON Health Publications Official Health Sourcebooks Conditions or Treatments A B C D ... Z Search: OBESE (Dictionary, Bibliography, and Internet Research Guide) OBESITY (Dictionary, Bibliography, and Internet Research Guide) OBESITY OBESITY OBSESSIVE COMPULSIVE (Dictionary, Bibliography, and Internet Research Guide) OBSESSIVE COMPULSIVE DISORDER (Dictionary, Bibliography, and Internet Research Guide) OBSESSIVE COMPULSIVE NEUROSIS (Dictionary, Bibliography, and Internet Research Guide) OBSTRUCTION OF THE NOSE (Dictionary, Bibliography, and Internet Research Guide) OBSTRUCTIVE AIRWAYS DISEASE OBSTRUCTIVE NEPHROPATHY (Dictionary, Bibliography, and Internet Research Guide) OBSTRUCTIVE SLEEP APNEA related to INFANTILE APNEA OBSTRUCTIVE SLEEP APNEA (Dictionary, Bibliography, and Internet Research Guide) related to OBSTRUCTIVE SLEEP APNEA OBSTRUCTIVE SLEEP APNEA related to SLEEP APNEA OBSTRUCTIVE UROPATHY (Dictionary, Bibliography, and Internet Research Guide) OCCIPITAL NEURALGIA (Dictionary, Bibliography, and Internet Research Guide) OCCIPITAL NEURALGIA OCCLUSIVE PERIPHERAL VASCULAR DISEASE (Dictionary, Bibliography, and Internet Research Guide)

88. Myocardial Ultrastructure And The Development Of Atrioventricular Block In Kearn block (kearnssayre syndrome) was examined in the electron microscope. detectable myocardial disease is not a feature of kearns-sayre syndrome. http://circ.ahajournals.org/cgi/content/abstract/63/1/214

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Charles, R. Articles by Rees, J. R. ARTICLES Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome R Charles, S Holt, JM Kay, EJ Epstein and JR Rees A right ventricular endomyocardial biopsy specimen from a 30-year-old male with chromic progressive external ophthalmoplegia, retinal pigmentation and complete atrioventricular block (Kearns-Sayre syndrome) was examined in the electron microscope. There was a proliferation of mitochondria between the myofibrils and beneath the sarcolemma. Many of the mitochondria showed morphologic abnormalities not previously described in this condition. There were associated accumulations of glycogen. A similarly affected female with left anterior hemiblock developed complete atrioventricular block at age 26 years, Despite the ultrastructural changes, clinically detectable

89. Arch Intern Med -- Abstract: Kearns-Sayre Syndrome. A Review Of A Multisystem Di kearnssayre syndrome. A review of a multisystem disorder of children and young adults. IJ Butler and N. Gadoth. The syndrome of a slowly progressive http://archinte.ama-assn.org/cgi/content/abstract/136/11/1290

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 136 No. 11, November 1, 1976 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Butler IJ Gadoth N Contact me when this article is cited Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults I. J. Butler and N. Gadoth The syndrome of a slowly progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was described by Kearns and Sayre in 1958. In patients with this triad, other neurological deficits may occur with associated abnormalities of the electrocardiogram, electroencephalogram, audiogram, and an elevation of protein in cerebrospinal fluid. The onset of a potentially lethal cardiac dysrhythmia

90. Computed Tomography In Oculocraniosomatic Disease (Kearns-Sayre Syndrome) -- Sei Computed tomography in oculocraniosomatic disease (kearnssayre syndrome). RS Seigel, JF Seeger, TO Gabrielsen and RJ Allen http://radiology.rsnajnls.org/cgi/content/abstract/130/1/159

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Seigel, R. S. Articles by Allen, R. J. ARTICLES Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome) RS Seigel, JF Seeger, TO Gabrielsen and RJ Allen Computed tomography (CT) in patients with oculocraniosomatic disease (OCSD) or Kearns-Sayre syndrome has not been previously reported to the authors' knowledge. CT scans were performed in 6 children and 3 adults with OCSD. Abnormalities in children included: intracranial calcifications (4 patients); white matter disease (3 patients); cerebellar hypoplasia (1 patient); and scattered areas of decreased density in the cerebellar

91. Kearns-Sayre Syndrome » Medical Dictionary Terms | Definitions, Description. Inherited disorder (autosomal dominant with onset before age 15). Characteristics progressive ophthalmoplegia, pigmentary degeneration of the retina, http://www.htmdesigner.com/dic/K/med-dic-terms-Kearns_Sayre_syndrome.phtml

Medical Dictionary Terms Search A B ... Z Kearns-Sayre syndrome Kearns-Sayre syndrome Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. Web medfamily.org Want to discuss this term? Visit our forum or our chat room Total Medical Terms: Rate this site! 1 - Worst 10 - Best Joint Partnership with Med School Chat part of the School Chat Network By viewing this website, you agree to our We're still here, you rockin' with the best! Best View with 1024x768 screen and IE 5.0 Although the HTM Designer materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.

92. Kearns-Sayre Syndrome » Medical Diagnosis And Advice kearnssayre syndrome. Medical Diagnosis Advice » K » kearns-sayre syndrome. Medical Diagnosis and Advice Search » A » B » C » D » E » F » G » H » I http://www.htmdesigner.com/diag/K/medical-diagnosis-terms-Kearns_Sayre_syndrome.

Medical Diagnosis and Advice Search A B ... Z Kearns-Sayre syndrome Kearns-Sayre syndrome OVERVIEW: Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. CAUSES: TREATMENT MISCELLANEOUS SYNONYMS: ICD-9-CM: 378.55 external ophthalmoplegia see images Want to discuss this term? Visit our forum or our chat room SEE ALSO (Enter the keywords below into our search box or click on the link): Hyponatremia Web medfamily.org Total Medical Terms: Rate this site! 1 - Worst 10 - Best Joint Partnership with Med School Chat part of the School Chat Network By viewing this website, you agree to our We're still here, you rockin' with the best! Best View with 1024x768 screen and IE 5.0

93. Deletion In Blood Mitochondrial DNA In Kearns-Sayre Syndrome -- Fischel-Ghodsian Deletion in blood mitochondrial DNA in kearnssayre syndrome Mitochondrial DNA deletions have been described in the kearns-sayre syndrome (KSS) and the http://www.pedresearch.org/cgi/content/abstract/31/6/557

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Fischel-Ghodsian, N. Articles by Edwards, M. J. ARTICLES Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome N Fischel-Ghodsian, MC Bohlman, TR Prezant, JM Graham Jr, SD Cederbaum and MJ Edwards Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048. Mitochondrial DNA deletions have been described in the Kearns-Sayre syndrome (KSS) and the Pearson's marrow-pancreas syndrome. In some cases, the same 4,977-bp deletion has been identified in these two very different diseases. Therefore, it is not currently possible to predict the clinical phenotype from the size or location of the deletion. Instead, differential

94. Progressive Increase Of The Mutated Mitochondrial DNA Fraction In Kearns-Sayre S What Is kearnssayre syndrome After All? Arch Neurol, July 1, 2001; 58(7) 1053 - 1054. Full Text PDF Home page Annals NYAS Online Home page http://www.pedresearch.org/cgi/content/abstract/28/2/131

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Larsson, N. G. Articles by Tulinius, M. ARTICLES Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome NG Larsson, E Holme, B Kristiansson, A Oldfors and M Tulinius Department of Clinical Chemistry, Gothenburg University, Sahlgrens Hospital, Sweden. We have performed morphologic and biochemical studies in three pediatric cases of Kearns-Sayre syndrome. All cases had heteroplasmy with a high percentage of mitochondrial DNA (mtDNA) with deletion in muscle. The deletions were mapped to the same region of mtDNA but were of different sizes. The same type of deletion could also be detected in fibroblasts from

95. Cardiomyopathy In The Kearns-Sayre Syndrome -- Channer Et Al. 59 (4): 486 -- Hea The kearnssayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, http://heart.bmjjournals.com/cgi/content/abstract/59/4/486

document.write(''); HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Channer, K. S. Articles by Rees, J. R. PAPERS Cardiomyopathy in the Kearns-Sayre syndrome KS Channer, JL Channer, MJ Campbell and JR Rees Department of Cardiology, Bristol Royal Infirmary. The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of

96. Detection Of Platelet Mitochondrial DNA Deletions In Kearns-Sayre Syndrome [publ To establish a noninvasive genetic diagnosing method for kearnssayre syndrome, the authors used the polymerase chain reaction (PCR) technique for detecting http://www.iovs.org/cgi/content/abstract/32/10/2667

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Order Full text via Infotrieve Submit a response Alert me when this article is cited Alert me when eLetters are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Ota, Y. Articles by Ozawa, T. ARTICLES AND REPORTS Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome [published erratum appears in Invest Ophthalmol Vis Sci 1995 Jan;36(1):3] Y Ota, M Tanaka, W Sato, K Ohno, T Yamamoto, M Maehara, T Negoro, K Watanabe, S Awaya and T Ozawa Department of Ophthalmology, Faculty of Medicine, University of Nagoya, Japan. To establish a noninvasive genetic diagnosing method for Kearns-Sayre syndrome, the authors used the polymerase chain reaction (PCR) technique for detecting mitochondrial DNA (mtDNA) deletions in the platelets and directly sequenced the crossover regions of the deleted mtDNA using the fluorescence-based automated sequencing system. The mtDNA deletions were

97. Kearns-Sayre Syndrome » Medical Dictionary | Definitions, Description, Chat, Di Inherited disorder (autosomal dominant with onset before age 15). Characteristics progressive ophthalmoplegia, pigmentary degeneration of the retina, http://www.medfamily.org/dictionary/K/terms-Kearns_Sayre_syndrome.phtml

Medical Dictionary Search A B ... Z Kearns-Sayre syndrome Kearns-Sayre syndrome Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. Web medfamily.org Want to discuss this term? Visit our forum or our chat room Total Medical Terms: Rate this site! 1 - Worst 10 - Best Joint Partnership with Care Earth SGU Community Solo Futbol TUMS-Ped ... Cheap Store We're still here, you rockin' with the best! Best View with 1024x768 screen and IE 5.0 Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.

98. Kearns-Sayre Syndrom - Små Och Mindre Kända Handikappgrupper kearnssayre syndrom (KSS) beskrevs först år 1958 och är en fortskridande multisystemsjukdom, Deletions of mitochondrial DNA in kearns-sayre syndrome. http://www.sos.se/smkh/1999-29-090/1999-29-090.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Kearns-Sayres syndrom Kronisk progressiv oftalmoplegi plus Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 1999-04-22 HTML-version 1.2 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 Med dr Atle Melberg, Neurocentrum, Akademiska sjukhuset, 751 85 Uppsala, tel 018-616 30 00, fax 018-55 92 63.

99. Retinal Pathology In The Kearns-Sayre Syndrome -- McKechnie Et Al. 69 (1): 63 -- Retinal pathology in the kearnssayre syndrome 14-year- old boy with kearns-sayre syndrome showed marked photoreceptor and pigment epithelial cell loss http://bjo.bmjjournals.com/cgi/content/abstract/69/1/63

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by McKechnie, N. M. Articles by Lee, W. R. British Journal of Ophthalmology, 1985, Vol 69, 63-75 ORIGINAL ARTICLES Retinal pathology in the Kearns-Sayre syndrome NM McKechnie, M King and WR Lee Examination of the retinal tissues obtained at necropsy from a 14-year- old boy with Kearns-Sayre syndrome showed marked photoreceptor and pigment epithelial cell loss in the retinal periphery and around the optic nerve head. Electron microscopy of surviving retinal pigment epithelial (RPE)

100. CMGS-Mitochondrial Inheritance (2)/ 16.11.99 kearnssayre syndrome (KSS) is characterised by progressive external kearns-sayre syndrome- mutant mitochondria are more localised to muscle and CNS. 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.

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