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

• Symptomatic• Heart• Muscle• Hearing• Diabetes• Vision• Drugs

Noticed Anomalies in lab studies• Changes in grey and white matter levels in various parts of the brain

• Many help explain dementia seen in some individuals

• Abnormally large irregularly shaped mitochondria in heart and skeletal muscle

• Supportive • Syndrome becomes worse with time • inevitably fatal

• Symptomatic• Heart• Muscle• Hearing• Diabetes• Vision• Drugs

Noticed Anomalies in lab studies• Changes in grey and white matter levels in various parts of the brain

• Many help explain dementia seen in some individuals

• Abnormally large irregularly shaped mitochondria in heart and skeletal muscle