摘要
线粒体病(MID)是由线粒体DNA(mt DNA)或核DNA(n DNA)基因突变引起的一组异质性遗传代谢疾病。由于其广泛的遗传异质性,MID具有多种表型。有时,受MID影响的器官可能会因另一器官、组织、系统的继发性疾病而变得复杂。继发性并发症可通过动脉、神经或内分泌信号从原发部位传播。动脉受MID影响可能会导致动脉高压、缺血、出血或动脉瘤形成。癫痫发作可能与创伤性脑损伤、Takotsubo综合征或癫痫猝死(SUDEP)有关。垂体腺瘤可能引起皮质功能减退、动脉低血压、性腺功能减退或身材矮小。糖尿病或甲状旁腺功能减退可能与神经病变、动脉低血压、低钙血症或视野缺损有关。肾脏受累可引起动脉高压。肝脏或免疫细胞受累可能会导致感染。MID的继发性表现可能会严重影响治疗管理、疾病轨迹和患者预后,因此需要仔细评估。
Mitochondrial disorders(MIDs)are a heterogeneous group of genetic metabolic diseases due to mutations in the mitochondrial DNA(mtDNA)or in the nuclear DNA(nDNA)(Rahman and Rahman,2018).Some affected genes encode proteins with various functions,or structural RNAs such as transfer RNAs(tRNAs)and ribosomal RNAs(rRNAs).MIDs may also be caused by mutations in non-coding regions(e.g.,D-loop of mtDNA)(Rahman and Rahman,2018).Proteins involved in MIDs include enzymes,assembling factors,transport proteins,signaling proteins,pore proteins,and fusion/fission proteins(Gorman et al.,2016).
