MITOCHONDRIAL DISESES

 Mitochondrial encephalomyopathies constitute a broad group of disorders that were first described in the early 1960s, when systemic ultrastructural and histochemical studies revealed excessive proliferation of mitochondria of normal or ubnormal appearance in muscle from patients with weakness or exercise intolerance. knowledge of this group of disorder was gained following the introduction of the modified gomori trichrome stain, which revealed the presence of subsarcolemmal accumulation of mitochondria myopathy.
 However, although the central nervous system and skeletal muscle seemed to be the main "targeted" organs for mitochondrial disease, it soon became clear that patients might also present with atypical clinical phenotypes suggestive of the involvement of other organs.
 This may occur to such an extent that the phenotype is dominated by a non-encephalmoyopathic presentation. A
patient with sideroblastic anemia and renal proximal tubulopathy, characteristic of a DE Toni-Debre-Fanconi syndrome. Molecular genetic studies demonstrated the presence of unusual mitochondrial DNA (mtDNA) deletion. not flanked by direct repeate elements but by palindrome sequences, which most likely are responsible for the etiology of the deletion and the cause of the disease in the patient. 

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