Abstract
Desminopathies caused by the mutation in the gene coding for desmin are genetically protein aggregation myopathies. Mitochondrial dysfunction is one of pathological changes in the desminopathies at the earliest stage. The molecular mechanisms of mitochondria dysfunction in desminopathies remain exclusive. VDAC1 regulates mitochondrial uptake across the outer membrane and mitochondrial outer membrane permeabilization (MOMP). Relationships between desminopathies and Voltage-dependent anion channel 1 (VDAC1) remain unclear. Here we successfully constructed the desminopathy rat model, evaluated with conventional stains, containing hematoxylin and eosin (HE), Gomori Trichrome (MGT), (PAS), red oil (ORO), NADH-TR, SDH staining and immunohistochemistry. Immunofluorescence results showed that VDAC1 was accumulated in the desmin highly stained area of muscle fibers of desminopathy patients or desminopathy rat model compared to the normal ones. Meanwhile apoptosis related proteins bax and ATF2 were involved in desminopathy patients and desminopathy rat model, but not bcl-2, bcl-xl or HK2.VDAC1 and desmin are closely relevant in the tissue splices of deminopathies patients and rats with desminopathy at protein lever. Moreover, apoptotic proteins are also involved in the desminopathies, like bax, ATF2, but not bcl-2, bcl-xl or HK2. This pathological analysis presents the correlation between VDAC1 and desmin, and apoptosis related proteins are correlated in the desminopathy. Furthermore, we provide a rat model of desminopathy for the investigation of desmin related myopathy.
Highlights
Desminopathies, known as genetically skeletal myopathy and/or cardiomyopathy, is the most common subtype of protein aggregated myopathies
Apoptosis related proteins bax and activated into factor 2 (ATF2) were involved in desminopathy patients and desminopathy rat model, but not bcl-2, bcl-xl or HK2.Voltage-dependent anion channel 1 (VDAC1) and desmin are closely relevant in the tissue splices of deminopathies patients and rats with desminopathy at protein lever
In frozen sections of skeletal muscle of the desminopathy patients or animal model, we found that desmin and VDAC1 deposition with high signals in muscle fibers, and the related pro-apoptotic proteins appeared high signal aggregation, and about related anti-apoptotic proteins, HK2 in patients and bcl-2 in desminopathy rat model are slightly lower expressed than the normal ones, the other anti-apoptotic proteins are unclear
Summary
Desminopathies, known as genetically skeletal myopathy and/or cardiomyopathy, is the most common subtype of protein aggregated myopathies. This disease ranged from childhood to late adulthood is severely disabling disease, was due to the mutation of human desmin gene on chromosome 2q35 [1]. Most of patients with desminopathy loss their kinetism for 10 to 20 years of pathogenesis and died of cardiomyopathy or respiratory failure. VDAC1 in Desminopathy is characterized by enlarged myofibrillar diameter, desmin protein aggregate. The precise pathology of myopathies is myofibrillar intermediate sediments. Desminopathies are mainly reported in Northern American, less in China and Japan
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