Abstract
Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in nearly all eukaryotes. It acts as a “power plant” by producing ATP through oxidative phosphorylation, providing energy for the cell. The bioenergetic functions of mitochondria are regulated by nuclear genes (nDNA). Mitochondrial DNA (mtDNA) and respiratory enzymes lose normal structure and function when nuclear genes encoding the related mitochondrial factors are impaired, resulting in deficiency in energy production. Massive generation of reactive oxygen species and calcium overload are common causes of mitochondrial diseases. The mitochondrial depletion syndrome (MDS) is associated with the mutations of mitochondrial genes in the nucleus. It is a heterogeneous group of progressive disorders characterized by the low mtDNA copy number. TK2, FBXL4, TYPM, and AGK are genes known to be related to MDS. More recent studies identified new mutation loci associated with this disease. Herein, we first summarize the structure and function of mitochondria, and then discuss the characteristics of various types of MDS and its association with cardiac diseases.
Highlights
If the muscle remains in a long-term contraction state, the content of ATP generated by oxidative phosphorylation of respiratory chain increases, and electrons overflow into electron transport chain (ETC) to generate reactive oxygen species (ROS) [13]
The mitochondrial genome consists of 37 genes, including 22 transfer RNA (tRNA) genes, 13 genes that encode the subunits of mitochondrial respiratory chain and oxidative phosphorylation-related proteins snd 2 ribosomal RNA (rRNA) genes (12S and 16S)
In MNGIE, a loss of thymidine phosphorylase (TP) activity leads to the accumulation of deoxyuridine and thymidine (Thd), which infiltrate through the mitochondrial pyrimidine remedy pathway, leading to an imbalance of deoxyuridine triphosphate pool
Summary
Haiying Wang 1, Yijun Han 2, Shenwei Li 3, Yunan Chen 3, Yafen Chen 3, Jing Wang 4, Yuqing Zhang 3, Yawen Zhang 3, Jingsuo Wang 3, Yong Xia 5* and Jinxiang Yuan 6*. DNA Depletion Syndrome and Its Associated Cardiac Disease. Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in most eukaryotes. Mitochondrial DNA (mtDNA) and respiratory enzymes lose normal structure and function when nuclear genes encoding the related mitochondrial factors are impaired, resulting in deficiency in energy production. The mitochondrial depletion syndrome (MDS) is associated with the mutations of mitochondrial genes in the nucleus. It is a heterogeneous group of progressive disorders characterized by the low mtDNA copy number. We first summarize the structure and function of mitochondria, and discuss the characteristics of various types of MDS and its association with cardiac diseases
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