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Mahmoud A. Hashim
Visiting student at upstate Medical
University
Final year student at Ainshams university –
School of medicine
Ahmed Mohamed
Visiting student at upstate Medical
University
Final year student at Ainshams university –
School of medicine
Presented in PICU Department
 Are cellular organelles
responsible for oxidative
phosphorylation, which produces
energy in the form of adenosine
triphosphate (ATP).
 Only defects in
the respiratory chain that impair
oxidative phosphorylation are
considered to be primary
mitochondrial disorders.
 A group of disorders
 Caused by Pathologic dysfunction of the Mitochondrial
respiratory chain
 Present with a wide range of clinical expression.
 Organ systems relying most on aerobic metabolism are
affected.
 Involvement of the nervous system in general is common.
 More than 70 different polypeptides interact on the inner
mitochondrial membrane to form the respiratory chain.
 The majority of subunits are synthesized within the cytosol
from nuclear gene transcripts, but 13 essential subunits are
encoded by the mitochondrial DNA (mtDNA).
A) Maternal Inheritance
 A mother with a mitochondrial
DNA gene mutation will pass
this abnormal gene to all of her
children.
 The children will all be
affected, with
different degrees of severity.
 More than 70 different polypeptides interact on the inner
mitochondrial membrane to form the respiratory chain.
 The majority of subunits are synthesized within the cytosol
from nuclear gene transcripts, but 13 essential subunits are
encoded by the mitochondrial DNA (mtDNA).
 Mitochondrial disease can be
passed on only if
BOTH the mother and father
are “carriers”.
 This means that they carry
the mutated gene, but not
the disease.
If one parent has
dominant nuclear DNA
gene mutation
This abnormal gene will be
passed on to
50%
of his/her children.
 Mitochondrial disease may present with
“any symptom in any organ at any age”
 Some mitochondrial disorders affect a single organ, but many involve
multiple organ systems and often present with prominent neurologic and
myopathic features.
 Many individuals display a group of clinical features that fall into a
discrete clinical syndrome.
 The most common presentation of mitochondrial disease was an
Encephalomyopathic form .
 Isolated or combined symptoms and signs of encephalopathy, seizures,
hypotonia, and/or ophthalmopathy (53 %).
 Other presentations included a hepato-intestinal form in 25 %,
a cardiac form manifesting mainly as early fatal cardiomyopathy in 16 %,
and Barth syndrome (X-linked cardiomyopathy, mitochondrial myopathy
and cyclic neutropenia) in 6 %.
 Mitochondrial dysfunction should be considered as a differential
diagnosis of any progressive multisystem disorder.
 Diagnosis is complex and requires the integration of information
obtained by history, laboratory testing, imaging, and muscle biopsy.
 The outcome of this process is a statement of how probable it is that
the patient has a primary mitochondrial disease on a scale ranging from
“unlikely” to “definite.” In between are “possible” and “probable”
mitochondrial disease designations.

 A major clue to mitochondrial disease is a history of multisystem
involvement, especially in organs that requires great amount of energy.
 One of the major clues to mitochondrial disease is a clear family history of
the same disorder, particularly in cases of maternal transmission only.
 The examination of a patient with suspected mitochondrial disease should
look for evidence of the following
 Optic atrophy and Pigmentary retinopathy
 Cardiac enlargement
 Central nervous system findings
 Peripheral nervous system findings
Tests Performed
EKGSerum Lactate
EEG & EMGSerum CK
MRI & MRSSerum Fasting Glucose
LFTs & KFTs
I. Muscle Biopsy
 A biopsy of skeletal muscle permits
histopathology, electron
microscopy, respiratory chain
enzymology, and mtDNA testing.
 The classic hallmark of
mitochondrial diseases is
subsarcolemmal and
intermyofibrillar accumulation of
mitochondria visualized on
Gomori trichrome stain.
The mitochondria appear as
bright red masses against the blue
background of the myofibers,
which led to the term
"ragged red fibers" (RRF)
 Electron microscopy may show abnormal mitochondria with increased
size and abnormal cristae.
 Muscle respiratory chain enzymology
o Performed on frozen skeletal muscle tissue.
o The activities of the enzyme complexes involved in making adenosine
triphosphate (ATP) are measured and expressed relative to citrate
synthase, a marker enzyme.
 Carried out on genomic DNA extracted from blood (suspected nuclear
DNA mutations and some mtDNA mutations) or on genomic DNA
extracted from muscle.
 However, even patients who have a known pathogenic mtDNA mutation
may be asymptomatic depending on the percentage load of mutant
mtDNA.
I. Symptomatic Treatment
Including Respiratory care, Seizures control, CVS assessment and DM
screening.
II. Exercise
 Beneficial in mitochondrial disorders.
 Aerobic exercise increases peak work, oxidative capacity, and mitochondrial
volume.
 Aerobic exercise can prevent muscle deconditioning and decrease exercise
intolerance.
III. Pharmacological Therapy
 No proven Effective Therapy.
A. Respiratory chain cofactors
 Succinate, riboflavin, thiamine, and coenzyme Q10 participate as cofactors in the
electron transport chain enzymes.
 Supplementation is thought to enhance the activity of these enzymes when they
are deficient.
B. Antioxidants
 Mitochondrial diseases in general result in an increase in oxidative stress and higher
levels of reactive oxygen species.
 This may cause damage to the cell membrane through lipid peroxidation.
C. Correcting secondary biochemical deficits
 Levels of carnitine, creatine, and folate are decreased in patients with mitochondrial
disorders, although the exact mechanisms are unclear.
 They are often given as part of a "mitochondrial cocktail" to patients.
1. Mitochondrial Disorders Overview, 2010, Patrick F Chinnery
2. Diagnosis and management of patients with mitochondrial
disease,2011, Andre Mattman et al.
3. Primer on mitochondrial disease: Biochemistry, genetics,
and epidemiology, 2011, Sandra Sirrs et al.
4. Mitochondrial myopathies: Clinical features and diagnosis,
Uptodate.
5. Mitochondrial myopathies: Treatment, Uptodate.


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Mitochondrial diseases overview!

  • 1. Mahmoud A. Hashim Visiting student at upstate Medical University Final year student at Ainshams university – School of medicine Ahmed Mohamed Visiting student at upstate Medical University Final year student at Ainshams university – School of medicine Presented in PICU Department
  • 2.  Are cellular organelles responsible for oxidative phosphorylation, which produces energy in the form of adenosine triphosphate (ATP).  Only defects in the respiratory chain that impair oxidative phosphorylation are considered to be primary mitochondrial disorders.
  • 3.  A group of disorders  Caused by Pathologic dysfunction of the Mitochondrial respiratory chain  Present with a wide range of clinical expression.  Organ systems relying most on aerobic metabolism are affected.  Involvement of the nervous system in general is common.
  • 4.  More than 70 different polypeptides interact on the inner mitochondrial membrane to form the respiratory chain.  The majority of subunits are synthesized within the cytosol from nuclear gene transcripts, but 13 essential subunits are encoded by the mitochondrial DNA (mtDNA).
  • 5. A) Maternal Inheritance  A mother with a mitochondrial DNA gene mutation will pass this abnormal gene to all of her children.  The children will all be affected, with different degrees of severity.
  • 6.  More than 70 different polypeptides interact on the inner mitochondrial membrane to form the respiratory chain.  The majority of subunits are synthesized within the cytosol from nuclear gene transcripts, but 13 essential subunits are encoded by the mitochondrial DNA (mtDNA).
  • 7.  Mitochondrial disease can be passed on only if BOTH the mother and father are “carriers”.  This means that they carry the mutated gene, but not the disease.
  • 8. If one parent has dominant nuclear DNA gene mutation This abnormal gene will be passed on to 50% of his/her children.
  • 9.
  • 10.  Mitochondrial disease may present with “any symptom in any organ at any age”  Some mitochondrial disorders affect a single organ, but many involve multiple organ systems and often present with prominent neurologic and myopathic features.  Many individuals display a group of clinical features that fall into a discrete clinical syndrome.
  • 11.
  • 12.  The most common presentation of mitochondrial disease was an Encephalomyopathic form .  Isolated or combined symptoms and signs of encephalopathy, seizures, hypotonia, and/or ophthalmopathy (53 %).  Other presentations included a hepato-intestinal form in 25 %, a cardiac form manifesting mainly as early fatal cardiomyopathy in 16 %, and Barth syndrome (X-linked cardiomyopathy, mitochondrial myopathy and cyclic neutropenia) in 6 %.
  • 13.  Mitochondrial dysfunction should be considered as a differential diagnosis of any progressive multisystem disorder.  Diagnosis is complex and requires the integration of information obtained by history, laboratory testing, imaging, and muscle biopsy.  The outcome of this process is a statement of how probable it is that the patient has a primary mitochondrial disease on a scale ranging from “unlikely” to “definite.” In between are “possible” and “probable” mitochondrial disease designations. 
  • 14.  A major clue to mitochondrial disease is a history of multisystem involvement, especially in organs that requires great amount of energy.  One of the major clues to mitochondrial disease is a clear family history of the same disorder, particularly in cases of maternal transmission only.  The examination of a patient with suspected mitochondrial disease should look for evidence of the following  Optic atrophy and Pigmentary retinopathy  Cardiac enlargement  Central nervous system findings  Peripheral nervous system findings
  • 15. Tests Performed EKGSerum Lactate EEG & EMGSerum CK MRI & MRSSerum Fasting Glucose LFTs & KFTs
  • 16. I. Muscle Biopsy  A biopsy of skeletal muscle permits histopathology, electron microscopy, respiratory chain enzymology, and mtDNA testing.  The classic hallmark of mitochondrial diseases is subsarcolemmal and intermyofibrillar accumulation of mitochondria visualized on Gomori trichrome stain. The mitochondria appear as bright red masses against the blue background of the myofibers, which led to the term "ragged red fibers" (RRF)
  • 17.  Electron microscopy may show abnormal mitochondria with increased size and abnormal cristae.  Muscle respiratory chain enzymology o Performed on frozen skeletal muscle tissue. o The activities of the enzyme complexes involved in making adenosine triphosphate (ATP) are measured and expressed relative to citrate synthase, a marker enzyme.
  • 18.  Carried out on genomic DNA extracted from blood (suspected nuclear DNA mutations and some mtDNA mutations) or on genomic DNA extracted from muscle.  However, even patients who have a known pathogenic mtDNA mutation may be asymptomatic depending on the percentage load of mutant mtDNA.
  • 19. I. Symptomatic Treatment Including Respiratory care, Seizures control, CVS assessment and DM screening. II. Exercise  Beneficial in mitochondrial disorders.  Aerobic exercise increases peak work, oxidative capacity, and mitochondrial volume.  Aerobic exercise can prevent muscle deconditioning and decrease exercise intolerance.
  • 20. III. Pharmacological Therapy  No proven Effective Therapy. A. Respiratory chain cofactors  Succinate, riboflavin, thiamine, and coenzyme Q10 participate as cofactors in the electron transport chain enzymes.  Supplementation is thought to enhance the activity of these enzymes when they are deficient. B. Antioxidants  Mitochondrial diseases in general result in an increase in oxidative stress and higher levels of reactive oxygen species.  This may cause damage to the cell membrane through lipid peroxidation. C. Correcting secondary biochemical deficits  Levels of carnitine, creatine, and folate are decreased in patients with mitochondrial disorders, although the exact mechanisms are unclear.  They are often given as part of a "mitochondrial cocktail" to patients.
  • 21. 1. Mitochondrial Disorders Overview, 2010, Patrick F Chinnery 2. Diagnosis and management of patients with mitochondrial disease,2011, Andre Mattman et al. 3. Primer on mitochondrial disease: Biochemistry, genetics, and epidemiology, 2011, Sandra Sirrs et al. 4. Mitochondrial myopathies: Clinical features and diagnosis, Uptodate. 5. Mitochondrial myopathies: Treatment, Uptodate. 