1. KEARNS-SAYRE SYNDROME (KSS) By: Emily Tucker

2. When did Kearns-Sayre Come About?  Thomas P. Kearns and George Pomeroy Sayre (1958)  Clinical triad of external ophthalmoplegia, retinitis pigmentosa, and irregular heart beats  noted  two patients  1970s  Berenburg & colleagues  5 cases discovered showing triad of clinical features  1988  Rowland & colleagues  proposed gene defect in mitochondrial DNA (mtDNA)

3. What is Kearns-Sayre Syndrome?  Rare neuromuscular disorder  mitochondrial encephalomyopathies  Genetic alterations involving mitochondrial DNA (mtDNA)  Affects body  eyes  Features appearing before 20 years of age  Abnormalities in the mitochondria

4. What Causes Kearns-Sayre Syndrome?  Most cases  result of spontaneous deletion of genetic material in mitochondrial DNA  mtDNA found  nucleolus and cytoplasm  Cells in mitochondria  stomatic

5. Is Kearns-Sayre Syndrome Inherited?  Inherited rarely  Heteroplasmy  mutated mtDNA outnumbered by normal mtDNA  Inheritance  mtDNA breaks off sperm during fertilization  comes from mother

6. What are Some of the Symptoms for Kearns-Sayre Syndrome?  Ophthalmoplegia  Irregularities with electrical signals that control the heartbeat  Coordination and balancing problems when walking  Abnormally high levels of protein in fluid that protects brain and spinal cord  Weakness in limbs and muscles  Deafness  Kidney problems  Dementia, brain damage, or both  Ataxia  Small sex organs  Short stature

7. How is this Syndrome Diagnosed?  Test for lactate & protein levels in cerebrospinal fluid  high levels  person affected  Biopsy of the muscles  abnormal mtDNA  person affected  Abnormal mtDNA shows “ragged red fibers”

8. How can it be Treated?  No treatment discovered  Complications over time  heart failure, diabetes, blindness  should be treated as they arise  Exercise  Monitored by cardiologist & ophthalmologist  Ubidecarenone (Coenzyme Q10)  helps some symptoms

9. In Summary  Different cases were observed  discovered deletion in mtDNA  Neuromuscular disorder affecting mostly eyes before 20  Rarely inherited  if so, comes from mother  Two tests: biopsy of muscles & tests lactate and proteins level  No treatment  excerise, see cardiologist & ophthalmologist

10. Work Cited  “Deletion of Kearns-Sayre Syndrome.” Photograph. London Health Sciences Centre. N.d. Web. December, 1 2013..  “Kearns-Sayre Syndrome”. Genetics Home Reference. December 2011. Web. November 28, 2013..  “Kearns-Sayre Syndrome”. MedLink. July 20, 2012. Web. December 1, 2013..  “Kearns Sayre Syndrome”. NORD. 2013. Web. December 1, 2013..  “KSS”. Photograph. Kearns-Sayre Syndrome. N.d. Web. December 4, 2013..  “NINDS Kearns-Sayre Syndrome Information Page”. National Institute of Neurological Disorder and Stroke. June 4, 2012. Web. November 28, 2013..  O’Malley, Erin. “ School photos denoting progressive ptosis OU and lost of upper lid crease.” Photograph. Chronic Progressive External Ophthalmoplegia. N.d. Web. December, 4 2013..  Purna, Anna Basu. “Kearns-Sayre Syndrome Treatment and Management.” Medscape. June 14, 2012. Web. November 28, 2013..  “Ragged Red Fibers.” Photograph. Wikipedia. N.d. Web. December 1, 2013..  Weiss, Thomas C. “Kearns-Sayre Syndrome Symptoms, Diagnosis and Treatment Options”. Disabled World. July 29, 2010. Web. December 1, 2013..