[MS5-3A-2] Gene mutation screening using whole exome sequencing in lipid storage myopathy
Lipid storage myopathy (LSM) is characteristic disease, although clinical features are wide variety, diagnosis depend on only muscle pathology finding that muscle fibers with the amount of lipid droplets. For searching the cause of LSM, biochemical analysis is useful, however, the cause of LSM is also in various, sometimes we cannot but entrust a diagnosis to a genetic test. The classic LSM are Multiple acyl-coA dehydorogenase deficiency (MADD), Primary carnitine deficiency (PCD), Neutral lipid storage disease with myopathy (NLSDM), and Neutral lipid storage with ichthyosis (NLSDI). But there are other lipid metabolic diseases and mitochondrial disorders may cause of LSM, and over half of causes are still unknown.
To classify the cohort of LSM in our center and find novel causative gene, we performed next generation sequencing analysis about the families including the patients 15years old or younger. The result of analysis
The result of analysis : mitochondrial disorders (4), VLCAD deficiency (1), were found and known gene was found in 20 patients. In 4 mitochondrial disorders patients, 2 complex I deficiency patients and 2 mitochondrial depletion patients were seen.
In order to make genetic diagnosis of LSM cause, we should think about the possibility of mitochondrial disorders and other lipid metabolic diseases, especially, complex 1 deficiency and VLCAD deficiency may be associated with LSM.
In addition there remains a possibility of novel genes cause the disease as we could not identify the causative gene mutation in more than half of the cases.
To classify the cohort of LSM in our center and find novel causative gene, we performed next generation sequencing analysis about the families including the patients 15years old or younger. The result of analysis
The result of analysis : mitochondrial disorders (4), VLCAD deficiency (1), were found and known gene was found in 20 patients. In 4 mitochondrial disorders patients, 2 complex I deficiency patients and 2 mitochondrial depletion patients were seen.
In order to make genetic diagnosis of LSM cause, we should think about the possibility of mitochondrial disorders and other lipid metabolic diseases, especially, complex 1 deficiency and VLCAD deficiency may be associated with LSM.
In addition there remains a possibility of novel genes cause the disease as we could not identify the causative gene mutation in more than half of the cases.