S CI E NCE -BIOLOGY
MITOCHONDRIAL
DISEASES
BY: S er g i o N. C o r r ea E .
M a r i s ol H er n a n de z F.
R a fa el E . R a mi r e z R .
Va l en t ina L .
TOPICS
CAUSES
• DNA
• Mutate
WHAT IS IT?
• Defects
• Inherited
TREATMENT
• Organ
disorders
SYMPTOMS
• Therapy
• Drugs
WHAT IS IT?
Mitochondrial diseases are
disorders resulting from
the deficiency of one or
more proteins located in
the mitochondria and
involved in metabolism.
Over 150 mutations have
been described that end in
diseases of different types
WHAT IS IT?
EXAMPLES
1.Defects of the oxidation of fatty acids.
2.Defects of pyruvate metabolism
3.Pyruvate carboxylase deficiency (PC)
4.Deficit of pyruvate dehydrogenase (PHD)
5.Defects of the Krebs cycle.
6.Defects in oxidation-phosphorylation coupling.
7.Defects of the mitochondrial respiratory chain.
CAUSES
• Defects in nuclear DNA
(nDNA) or mitochondrial
DNA (mtDNA).
• Can be inherited (maternal)
in an autosomal dominant
or autosomal recessive
manner.
• Generally occurs again and
causes disease in a single
family member.
CAUSES
• The majority of
mitochondrial diseases can
be:
Therefore
Genetic
Environmental
Deletions with
duplications.
SYMPTOMS
• The symptoms
are very varied
and depend on
where the
damage is
located.
• The most
common
symptoms are:
Defect in growth
Psychomotor delay
SYMPTOMS
• •Diabetes
Mellitus
Eye disorders
Gastrointestinal
Disorder
Exercise intolerance
• •Endocrine
Disorders
Cardiomyopathy
HematologicalDeafness
Disorders
Neurosensory
TREATMENT
• Some mitochondrial
diseases can benefit from
an adequate nutritional
therapy, which provides
patients with the
adequate supply of
macronutrients (proteins,
carbohydrates and fats)
and micronutrients
(vitamins and trace
elements).
TREATMENT
• Antivirals, antibiotics and
anesthetics.
• Consult with your doctor.
• therapies for the
metabolic
decompensation
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