L Mitochondrial dysfunction is one of common etiologies in degenerative diseases of children. This review summarizes the recent advances on molecular genetics in mitochondrial DNA related diseases. mtDNA mutation is d...L Mitochondrial dysfunction is one of common etiologies in degenerative diseases of children. This review summarizes the recent advances on molecular genetics in mitochondrial DNA related diseases. mtDNA mutation is divided into two groups: mutations affecting protein synthesis including rRNA or tRNA point mutation and protein encoding gene mutation. The mtDNA transfer technique is still an important one in investigating mtDNA mutation pathogenesis. Transmitochondrial cell model is found extensive application in evaluating the gene expression of mitochondrial genome at different level. The establishment of transmitochondrial model is introduction of exogenous mitochondria into mtDNA lacking ρ°cells using cell fusion or microinjection technique. The model has been widely used for evaluation of the pathogenesis of mtDNA mutation resulted from genetic or environmental factors in neurodegenerative disease.展开更多
基金Research from the corresponding author's laboratory was supported by grants from the National Natural Science Foundation of China(No.31771320,31571224,31110103919).
文摘L Mitochondrial dysfunction is one of common etiologies in degenerative diseases of children. This review summarizes the recent advances on molecular genetics in mitochondrial DNA related diseases. mtDNA mutation is divided into two groups: mutations affecting protein synthesis including rRNA or tRNA point mutation and protein encoding gene mutation. The mtDNA transfer technique is still an important one in investigating mtDNA mutation pathogenesis. Transmitochondrial cell model is found extensive application in evaluating the gene expression of mitochondrial genome at different level. The establishment of transmitochondrial model is introduction of exogenous mitochondria into mtDNA lacking ρ°cells using cell fusion or microinjection technique. The model has been widely used for evaluation of the pathogenesis of mtDNA mutation resulted from genetic or environmental factors in neurodegenerative disease.
