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
