The Clinical Features, Iconography, Pathologic And Gene Analysis Of MELAS And The Study Of The Relationship Between MELAS And Mitophagy

Objectives：MELAS is a common type of mitochondrial myopathy worldwide, the clinicalmanifestations of it is varied, and could easily be misdirected.We study the clinicalfeatures, iconography, pathologic and gene analysis in6patients with MELAS，improve the recognition of this disease.Mitophagy has become a research hot spot in recent years. Some articlesreported that the injured muscle fibers of MELAS expressed autophagy marker. Sothis paper analyzed the relationship between MELAS and mitophagy, to investigatethe pathogenesis and therapeutic targets of MELAS.Material and methods：All the7cases of MELAS were from the department of neurology in the FirstAffiliated Hospital of Nanchang University and Chinese People’s Liberation Armyno.94Hospital from January2012to April2014who was diagnosed definitely byclinical, pathological DNA analysis, and3cases of normal control and2cases ofnecrotic muscle fibers. Then10cases were collected for muscle biopsies in order tocarry out Bcl-2and Beclin1staining.Results:The clinical manifestations of the7patients (5sporadic and2familial) arevaried. The brain mri showed signal abnormalities in the white matter involvement ofoccipital, parietal and temporal lobe. Histopathological examination showed6caseswere found the typical ragged red fibers (RRF),dark staining small vessels in SDHand dark staining fibers or negative ones in COX. The point mutation at A3243G ofmtdna was found in5patients and the point mutation at G13513A of mtdna wasfound in1case. Beclin1showed no expression in the case group.The positive immunohisto-chemical staining for Bcl-2protein was found in3of5patients and it was mainly located in involved myofibres and atrophy myofibres. Conclusions:The clinical manifestations of MELAS are altered.The diagnosis of it is basedprimarily on the clinical manifestation the imaging findings, muscle biopsy even ongenetic tests. Most of the cases were sporadic in Jiangxi province. Experssion ofmitophagy markers in MELAS were weak, It could be a new therapeutic target forMELAS.