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In the past few years several syndromes have been associated with lesions of the human mitochondrial DNA. MtDNA is a small, circular extra‐nuclear chromosome encoding essential components of the respiratory chain. MtDNA‐related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged‐red ...
Zeviani M., Antozzi C.
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Mitochondrial DNA and disease [PDF]
AbstractMitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS).
Robert W. Taylor+3 more
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Spermatozoon and mitochondrial DNA [PDF]
In eukaryotic cells, mitochondria are the major site of ATP production, which is achieved through the electron‐transport chain and oxidative phosphorylation, according to the energy demand. Mitochondria contain their own genome (mitochondrial DNA, mtDNA) on which a limited number of genes are encoded. In the human sperm, mitochondria helically wrap the
Shuji Hirata+3 more
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The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence
Guido Davidzon, Salvatore DiMauro
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Mitochondrial DNA in Sepsis [PDF]
Purpose of review Our understanding of critical illness is transforming as we develop a better understanding of the impact pathogen-associated molecular patterns and damage-associated molecular patterns (DAMPs) have on the pathogenesis of disease. Of the known DAMPs, there is a growing interest in mitochondrial DNA (mtDNA) as a
Kiichi Nakahira+2 more
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The accumulation of mitochondrial DNA mutations has been proposed as a potential mechanism in the physiological processes of ageing and age-related disease. Although mitochondria have long been anticipated as a perpetrator of ageing, there was little experimental evidence to link these changes directly with the cellular pathology of ageing.
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Plants possess mitochondrial genomes that are large and complex compared to animals. Nearly all animal mitochondrial genomes are about 16.5. kbp in length, whereas plant mitochondrial genomes range between 200-2,000 kbp. This is curious if we assume modern mitochondria originated from a common alpha-proteobacterial ancestor.
Stewart A. Morley, Brent L. Nielsen
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Mitochondrial DNA and Disease [PDF]
Mitochondrial diseases are a group of disorders characterized by morphological or functional defects of the mitochondria, the organelles producing most of our cellular energy. As the only extranuclear site carrying genetic information, the mitochondria add an important chapter into the inheritance patterns of genetic diseases. Mitochondrial DNA (mtDNA)
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Making tau amyloid models in vitro: a crucial and underestimated challenge
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley +1 more source
Decoding the dual role of autophagy in cancer through transcriptional and epigenetic regulation
Transcriptional and epigenetic regulation controls autophagy, which exerts context‐dependent effects on cancer: Autophagy suppresses tumorigenesis by maintaining cellular homeostasis or promotes tumor progression by supporting survival under stress. In this “In a Nutshell” article, we explore the intricate mechanisms of the dual function of autophagy ...
Young Suk Yu, Ik Soo Kim, Sung Hee Baek
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