Human Mitochondrial RNA Processing and Modifications: Overview

Mitochondria, often referred to as the powerhouses of cells, are vital organelles that are present in almost all eukaryotic organisms, including humans. They are the key energy suppliers as the site of adenosine triphosphate production, and are involved in apoptosis, calcium homeostasis, and regulation of the innate immune response. Abnormalities occurring in mitochondria, such as mitochondrial DNA (mtDNA) mutations and disturbances at any stage of mitochondrial RNA (mtRNA) processing and translation, usually lead to severe mitochondrial diseases. A fundamental line of investigation is to understand the processes that occur in these organelles and their physiological consequences. Despite substantial progress that has been made in the field of mtRNA processing and its regulation, many unknowns and controversies remain. The present review discusses the current state of knowledge of RNA processing in human mitochondria and sheds some light on the unresolved issues.

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Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications

Reproduction ◽

10.1530/rep.0.1230751 ◽

2002 ◽

pp. 751-755 ◽

Cited By ~ 54

Author(s):

J Poulton ◽

DR Marchington

Keyword(s):

Mitochondrial Dna ◽

Antenatal Diagnosis ◽

Mitochondrial Diseases ◽

Management Options ◽

Mtdna Mutations ◽

Mendelian Disorders ◽

Leigh’S Syndrome ◽

Normal Individuals ◽

Substantial Progress ◽

Chorionic Villous Sampling

Mitochondrial DNA (mtDNA) is almost entirely maternally inherited. Thousands of copies of mtDNA are present in every nucleated cell and in most normal individuals these are virtually identical (homoplasmy). mtDNA diseases may be caused by mutations in either mitochondrial or nuclear genes and, hence, give rise to maternal or autosomal patterns of inheritance. Antenatal diagnosis of mitochondrial diseases based on chorionic villous sampling is available for Mendelian disorders and the syndromes caused by mutations at bp 8993 (associated with Leigh's syndrome and neurogenic weakness, ataxia and retinitis pigmentosa (NARP)). However, prenatal diagnosis of many other maternally inherited mtDNA diseases is less reliable because it is not possible to predict with confidence the way in which heteroplasmic mtDNA mutations segregate within tissues and find clinical expression. This review focuses on the substantial progress in genetics that has been made recently, and on the management options that clinicians can offer to families.

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Mitochondrial Genetic Drift after Nuclear Transfer in Oocytes

International Journal of Molecular Sciences ◽

10.3390/ijms21165880 ◽

2020 ◽

Vol 21 (16) ◽

pp. 5880

Author(s):

Mitsutoshi Yamada ◽

Kazuhiro Akashi ◽

Reina Ooka ◽

Kenji Miyado ◽

Hidenori Akutsu

Keyword(s):

Genetic Drift ◽

Nuclear Transfer ◽

Nuclear Dna ◽

Genetic Material ◽

Mitochondrial Diseases ◽

Nuclear Transplantation ◽

Inherited Disorders ◽

Mtdna Mutations ◽

Current State ◽

A Genome

Mitochondria are energy-producing intracellular organelles containing their own genetic material in the form of mitochondrial DNA (mtDNA), which codes for proteins and RNAs essential for mitochondrial function. Some mtDNA mutations can cause mitochondria-related diseases. Mitochondrial diseases are a heterogeneous group of inherited disorders with no cure, in which mutated mtDNA is passed from mothers to offspring via maternal egg cytoplasm. Mitochondrial replacement (MR) is a genome transfer technology in which mtDNA carrying disease-related mutations is replaced by presumably disease-free mtDNA. This therapy aims at preventing the transmission of known disease-causing mitochondria to the next generation. Here, a proof of concept for the specific removal or editing of mtDNA disease-related mutations by genome editing is introduced. Although the amount of mtDNA carryover introduced into human oocytes during nuclear transfer is low, the safety of mtDNA heteroplasmy remains a concern. This is particularly true regarding donor-recipient mtDNA mismatch (mtDNA–mtDNA), mtDNA-nuclear DNA (nDNA) mismatch caused by mixing recipient nDNA with donor mtDNA, and mtDNA replicative segregation. These conditions can lead to mtDNA genetic drift and reversion to the original genotype. In this review, we address the current state of knowledge regarding nuclear transplantation for preventing the inheritance of mitochondrial diseases.

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Assessment of the data on distribution, habitats and population size of Liparis loeselii (Orchidaceae) in Lithuania

Botanica Lithuanica ◽

10.1515/botlit-2016-0001 ◽

2016 ◽

Vol 22 (1) ◽

pp. 3-15 ◽

Cited By ~ 2

Author(s):

Egidijus Žalneravičius ◽

Zigmantas Gudžinskas

Keyword(s):

Herbarium Specimens ◽

Habitat Conditions ◽

Orchid Species ◽

Current State ◽

Population Sizes ◽

Liparis Loeselii ◽

Almost All ◽

Available Information ◽

Made In ◽

Species Ecology

Abstract Liparis loeselii is a declining orchid species in almost all European countries, mostly because of habitat loss. Therefore, good knowledge about the species ecology, distribution and populations is required in order to substantiate measures for its conservation. The aim of this research was to evaluate all available information about distribution, habitat types and population sizes of L. loeselii in Lithuania, in order to reveal the current state of our knowledge and identify information gaps. The study was based on the analysis of herbarium specimens and information in publications and various databases (a total of 481 unique records were used: 118 from herbaria, 121 from literature and 242 from databases). Intensive accumulation of information about L. loeselii started in the second half of the 20th century and a particularly large number of records were made in the period from 2010 to 2015 during the implementation of inventory and mapping of EU Habitats all over Lithuania. A summary of all information about L. loeselii revealed that it was registered in a total of 93 grid squares, and is mainly confined to uplands. The available information is quite sufficient for the evaluation of the species distribution and prevailing habitats, but is incomplete for the evaluation of population sizes, demographic structures and population trends under changing habitat conditions. Additional investigations are, therefore, required to enable a more accurate assessment of the size and viability of the L. loeselii metapopulation in Lithuania.

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Dysregulation of TCTP in Biological Processes and Diseases

Cells ◽

10.3390/cells9071632 ◽

2020 ◽

Vol 9 (7) ◽

pp. 1632

Author(s):

Ulrich-Axel Bommer ◽

Adam Telerman

Keyword(s):

Recent Progress ◽

Regulatory Mechanism ◽

Physiological Signals ◽

Biological Processes ◽

Biological Functions ◽

Multifunctional Protein ◽

Cellular Defense ◽

Eukaryotic Organisms ◽

Almost All ◽

Made In

Translationally controlled tumor protein (TCTP), also called histamine releasing factor (HRF) or fortilin, is a multifunctional protein present in almost all eukaryotic organisms. TCTP is involved in a range of basic cell biological processes, such as promotion of growth and development, or cellular defense in response to biological stresses. Cellular TCTP levels are highly regulated in response to a variety of physiological signals, and regulatory mechanism at various levels have been elucidated. Given the importance of TCTP in maintaining cellular homeostasis, it is not surprising that dysregulation of this protein is associated with a range of disease processes. Here, we review recent progress that has been made in the characterisation of the basic biological functions of TCTP, in the description of mechanisms involved in regulating its cellular levels and in the understanding of dysregulation of TCTP, as it occurs in disease processes such as cancer.

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Auto Markets in the World and Strategy of Japan’s Companies

Journal of Business and Economics ◽

10.15341/jbe(2155-7950)/10.10.2019/008 ◽

2019 ◽

Vol 10 (10) ◽

pp. 1003-1008

Author(s):

Hiroyuki Matsuoka ◽

Keyword(s):

Saudi Arabia ◽

Electric Vehicle ◽

New Technologies ◽

Auto Industry ◽

Domestic Market ◽

Automatic Driving ◽

The World ◽

Almost All ◽

Made In

In the world auto market, top three companies are VW(Volkswagen), Runault-Nissan-Mistubishi, and Toyota. About some selected countries and areas, China, England, Italy, Australia, Germany, Turkey, Russia, Sweden, USA, Brazil, UAE, Japan, Vietnam and Thailand are more competitive. However, the situation is different. Seeing monopolistic market countries and areas, Saudi Arabia, Taiwan, Korea, Malaysia, France, India, and Pakistan, in particular, the influence of Japan to Taiwan, India, and Pakistan is very big. But in Korea and France, their own companies’ brands occupy the market. In Japan domestic market, the overall situation is competitive. Almost all vehicles made in Japan are Japanese brand. From now on, we have to note the development of electric vehicle (EV) and other new technologies such as automatic driving and connected car. That is because they will give a great impact on the auto industry and market of Japan. Now Japan’s auto industry is going to be consolidated into three groups, Honda, Toyota group, and Renault-Nissan-Mitsubishi group for seeking the scale merit of economy. Therefore, I will pay attention to the worldwide development of EV and other new technologies and the reorganization of auto companies groups.

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Muhammad Nejatullah Siddiqui. Issues in Islamic Banking: Selected Papers, Leicester: The Islamic Foundation. 1983 , I 52pp.Author and Subject Indexes.

The Pakistan Development Review ◽

10.30541/v22i1pp.57-61 ◽

1983 ◽

Vol 22 (1) ◽

pp. 57-61

Author(s):

Shahrukh Rafi Khan

Keyword(s):

Analytical Model ◽

Significant Contribution ◽

Profit Sharing ◽

Islamic Banking ◽

Current State ◽

The Subject ◽

Made In

The book under review is a compilation of the author's articles and lectures that highlight the prominent developments in the literature on the subject of Islamic banking and inform the reader of the current state of debate on it. One of the earliest and main contributors to this topic is the author himself. The focus of this review will mainly be on "Economics of Profit-Sharing", which is the title of the fourth chapter of the book and is among his latest contributions. This chapter is a significant contribution as it is the first attempt to formalise the concept of profit sharing into an analytical model and, therefore, demands closer scrutiny. However, in the remaining chapters of the book, the author has drawn attention to some of the fine points made in the literature on this topic. Since some of these points appear to be controversial to me, I will briefly discuss them before moving on to the analytical chapter of the book.

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A Survey on Document-level Neural Machine Translation

ACM Computing Surveys ◽

10.1145/3441691 ◽

2021 ◽

Vol 54 (2) ◽

pp. 1-36

Author(s):

Sameen Maruf ◽

Fahimeh Saleh ◽

Gholamreza Haffari

Keyword(s):

Machine Translation ◽

Language Processing ◽

Research Field ◽

Translation Process ◽

Future Directions ◽

Translation Quality ◽

Current State ◽

Evaluation Strategies ◽

Almost All ◽

Document Level

Machine translation (MT) is an important task in natural language processing (NLP), as it automates the translation process and reduces the reliance on human translators. With the resurgence of neural networks, the translation quality surpasses that of the translations obtained using statistical techniques for most language-pairs. Up until a few years ago, almost all of the neural translation models translated sentences independently , without incorporating the wider document-context and inter-dependencies among the sentences. The aim of this survey article is to highlight the major works that have been undertaken in the space of document-level machine translation after the neural revolution, so researchers can recognize the current state and future directions of this field. We provide an organization of the literature based on novelties in modelling and architectures as well as training and decoding strategies. In addition, we cover evaluation strategies that have been introduced to account for the improvements in document MT, including automatic metrics and discourse-targeted test sets. We conclude by presenting possible avenues for future exploration in this research field.

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Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Children ◽

10.3390/children8070532 ◽

2021 ◽

Vol 8 (7) ◽

pp. 532

Author(s):

Dorota Wesół-Kucharska ◽

Dariusz Rokicki ◽

Aleksandra Jezela-Stanek

Keyword(s):

Oxidative Phosphorylation ◽

Mitochondrial Dysfunction ◽

Mitochondrial Disease ◽

Clinical Picture ◽

Poor Prognosis ◽

Treatment Options ◽

Mitochondrial Diseases ◽

Energy Deficit ◽

Atp Production ◽

Current State

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.

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Coronavirus and Soft Law in Germany: Business as Usual?

European Journal of Risk Regulation ◽

10.1017/err.2020.113 ◽

2021 ◽

pp. 1-17

Author(s):

Matthias Knauff

Keyword(s):

Legal Order ◽

Soft Law ◽

Constitutional Order ◽

Binding Forms ◽

Almost All ◽

Business As Usual ◽

Shed Light ◽

Made In

In combating the coronavirus pandemic in Germany, soft law has played an important, albeit not a central, role. Its use basically corresponds to that of under “normal circumstances”. In accordance with the German constitutional order, almost all substantial decisions are made in a legally binding form. However, these are often prepared through or supplemented by soft law. This article shows that soft law has played an important role in fighting the pandemic and its effects in Germany, although there cannot be any doubt that legally binding forms of regulation have prevailed. At the same time, the current pandemic has shed light on the advantages and effects of soft law in the context of the German legal order.

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Lightweight Stacked Hourglass Network for Human Pose Estimation

Applied Sciences ◽

10.3390/app10186497 ◽

2020 ◽

Vol 10 (18) ◽

pp. 6497

Author(s):

Seung-Taek Kim ◽

Hyo Jong Lee

Keyword(s):

Receptive Field ◽

Pose Estimation ◽

Network Architecture ◽

Human Pose Estimation ◽

Current State ◽

Reduction Methods ◽

Substantial Progress ◽

Human Pose ◽

Residual Block ◽

Point Detection

Human pose estimation is a problem that continues to be one of the greatest challenges in the field of computer vision. While the stacked structure of an hourglass network has enabled substantial progress in human pose estimation and key-point detection areas, it is largely used as a backbone network. However, it also requires a relatively large number of parameters and high computational capacity due to the characteristics of its stacked structure. Accordingly, the present work proposes a more lightweight version of the hourglass network, which also improves the human pose estimation performance. The new hourglass network architecture utilizes several additional skip connections, which improve performance with minimal modifications while still maintaining the number of parameters in the network. Additionally, the size of the convolutional receptive field has a decisive effect in learning to detect features of the full human body. Therefore, we propose a multidilated light residual block, which expands the convolutional receptive field while also reducing the computational load. The proposed residual block is also invariant in scale when using multiple dilations. The well-known MPII and LSP human pose datasets were used to evaluate the performance using the proposed method. A variety of experiments were conducted that confirm that our method is more efficient compared to current state-of-the-art hourglass weight-reduction methods.

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