Kearns-Sayre Syndrome Background • Rare neuromuscular disorder • Only 226 cases reported in literature • Effects mitochondria • Large duplications or deletions in mitochondrial DNA (>1000bp) results in under or over production of mitochondrial gene products • 1/3 cases 4977bp deletion • Randomly effects people • only isolated reports of any kind or inheritance pattern • Prognosis • Depends on severity • Severe cases 85% muscle mitochondrial genome affected
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Kearns-Sayre Syndrome
Background
Kearns-Sayre Syndrome
Background
• Rare neuromuscular disorder• Only 226 cases reported in literature
• Effects mitochondria• Large duplications or deletions in mitochondrial DNA
(>1000bp) results in under or over production of mitochondrial gene products
• 1/3 cases 4977bp deletion
• Randomly effects people• only isolated reports of any kind or inheritance pattern
• Prognosis• Depends on severity• Severe cases 85% muscle mitochondrial genome
affected
• Rare neuromuscular disorder• Only 226 cases reported in literature
• Effects mitochondria• Large duplications or deletions in mitochondrial DNA
(>1000bp) results in under or over production of mitochondrial gene products
• 1/3 cases 4977bp deletion
• Randomly effects people• only isolated reports of any kind or inheritance pattern
• Prognosis• Depends on severity• Severe cases 85% muscle mitochondrial genome
affected
SymptomsSymptoms• Onset before 20 and includes
• Immobile or limited eye movement• Abnormal pigment in eyes• Cardiac problems or congestive heart failure• Muscle and skeletal weakness• Short stature• Hearing • Ataxia (coordination problems)• Diabetes• Dementia and other mental illnesses
• Affects systems with higher energy requirements most
• Onset before 20 and includes• Immobile or limited eye movement• Abnormal pigment in eyes• Cardiac problems or congestive heart failure• Muscle and skeletal weakness• Short stature• Hearing • Ataxia (coordination problems)• Diabetes• Dementia and other mental illnesses
• Affects systems with higher energy requirements most
DiagnosisDiagnosis• Southern Blots using samples taken from
affected tissue– Isolate mitochondrial DNA from affected tissue
• 16.5 kb = normal • Additional larger or smaller bands found by probes =
duplication or deletion
• Accumulation of symptoms• Check the protein and lactate levels in the
cerebrospinal fluid • if present, the levels are elevated.
• Southern Blots using samples taken from affected tissue
– Isolate mitochondrial DNA from affected tissue• 16.5 kb = normal • Additional larger or smaller bands found by probes =
duplication or deletion
• Accumulation of symptoms• Check the protein and lactate levels in the
cerebrospinal fluid • if present, the levels are elevated.
TreatmentTreatment• Supportive
• Syndrome becomes worse with time • inevitably fatal