Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.

Abstract

A hereditary myopathy with lactic acidosis

Identification of novel molecular candidates for fatty liver in the hyperlipidemic mouse model, HcB19

“…SDHA and ACO2 have not been implicated in fatty liver before, and deficiencies in these genes have been associated with neurodegenerative disorders and myopathies (25,26). Nevertheless, the lower expression of these two enzymes is in agreement with the reduced tricarboxylic acid cycle activity that was demonstrated in the livers of HcB19 mice (13).…”

Rhabdomyolysis: A review

“…Combined defects have been described in several patients. 19,40,91 Family history is positive in approximately one third of cases with an identifiable enzyme defect. 152 In a study of 77 muscle biopsies from consecutive adults with "idiopathic" myoglobinuria in whom drug abuse had been excluded, specific enzyme defects were identified in 47%.…”

Tissue Specificity of a Human Mitochondrial Disease

“…The disease is characterized by life-long exercise intolerance in which trivial bouts of exercise can cause tachycardia and palpitations, dyspnea, muscle fatigue, and lactic acidosis (1)(2)(3). Many ISCU myopathy patients experience periods of muscle weakness, pain, and swelling associated with rhabdomyolysis and myoglobinuria followed by muscle regeneration and resolution of these symptoms (1,4).…”

“…Previous skeletal muscle biopsy analyses revealed a distinctive pattern of biochemical and histological hallmarks in ISCU myopathy, including deficiency of several mitochondrial iron-sulfur (Fe-S) proteins as well as mitochondrial iron overload in affected myofibers (4 -7). The most striking deficiencies in Fe-S proteins were observed in aconitase and mitochondrial complex II/succinate dehydrogenase (SDH) 2 (5,(7)(8)(9), although lesser deficiencies in mitochondrial complex I, III, and the Rieske protein were also reported (5,8).…”