scholarly journals Genetic Disorders Associated with Metal Metabolism

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1598 ◽  
Author(s):  
Muhammad Umair ◽  
Majid Alfadhel
Keyword(s):  
Metabolic Pathways ◽  
Energy Production ◽  
Genetic Disorders ◽  
Biological Functions ◽  
Nutrient Metabolism ◽  
Manganese Zinc ◽  
Metal Metabolism ◽  
Clinical Consequences ◽  
Iron Manganese ◽  
The Brain

Genetic disorders associated with metal metabolism form a large group of disorders and mostly result from defects in the proteins/enzymes involved in nutrient metabolism and energy production. These defects can affect different metabolic pathways and cause mild to severe disorders related to metal metabolism. Some disorders have moderate to severe clinical consequences. In severe cases, these elements accumulate in different tissues and organs, particularly the brain. As they are toxic and interfere with normal biological functions, the severity of the disorder increases. However, the human body requires a very small amount of these elements, and a deficiency of or increase in these elements can cause different genetic disorders to occur. Some of the metals discussed in the present review are copper, iron, manganese, zinc, and selenium. These elements may play a key role in the pathology and physiology of the nervous system.

Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features

2019 ◽  
Vol 15 (3) ◽  
pp. 255-268
Author(s):  
Direnç Özlem Aksoy ◽  
Alpay Alkan
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Metabolic Pathways ◽  
Wide Spectrum ◽  
Demyelinating Diseases ◽  
Resonance Spectroscopy ◽  
Resonance Imaging ◽  
Neurometabolic Disorders ◽  
Brain Involvement ◽  
The Brain

Background: Neurometabolic diseases are a group of diseases secondary to disorders in different metabolic pathways, which lead to white and/or gray matter of the brain involvement. </P><P> Discussion: Neurometabolic disorders are divided in two groups as dysmyelinating and demyelinating diseases. Because of wide spectrum of these disorders, there are many different classifications of neurometabolic diseases. We used the classification according to brain involvement areas. In radiological evaluation, MRI provides useful information for these disseases. Conclusion: Magnetic Resonance Spectroscopy (MRS) provides additional metabolic information for diagnosis and follow ups in childhood with neurometabolic diseases.

scholarly journals SHR/NCrl rats as a model of ADHD can be discriminated from controls based on their brain, blood, or urine metabolomes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Camille Dupuy ◽  
Pierre Castelnau ◽  
Sylvie Mavel ◽  
Antoine Lefevre ◽  
Lydie Nadal-Desbarats ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Attention Deficit Hyperactivity Disorder ◽  
Animal Model ◽  
Metabolic Pathways ◽  
Neurodevelopmental Disorder ◽  
Hyperactivity Disorder ◽  
Pathophysiological Condition ◽  
The Brain ◽  
And Oxidative Stress ◽  
Peripheral Samples

AbstractAttention-Deficit Hyperactivity Disorder (ADHD) is one of the most common neurodevelopmental disorder characterized by inattention, impulsivity, and hyperactivity. The neurobiological mechanisms underlying ADHD are still poorly understood, and its diagnosis remains difficult due to its heterogeneity. Metabolomics is a recent strategy for the holistic exploration of metabolism and is well suited for investigating the pathophysiology of diseases and finding molecular biomarkers. A few clinical metabolomic studies have been performed on peripheral samples from ADHD patients but are limited by their access to the brain. Here, we investigated the brain, blood, and urine metabolomes of SHR/NCrl vs WKY/NHsd rats to better understand the neurobiology and to find potential peripheral biomarkers underlying the ADHD-like phenotype of this animal model. We showed that SHR/NCrl rats can be differentiated from controls based on their brain, blood, and urine metabolomes. In the brain, SHR/NCrl rats displayed modifications in metabolic pathways related to energy metabolism and oxidative stress further supporting their importance in the pathophysiology of ADHD bringing news arguments in favor of the Neuroenergetic theory of ADHD. Besides, the peripheral metabolome of SHR/NCrl rats also shared more than half of these differences further supporting the importance of looking at multiple matrices to characterize a pathophysiological condition of an individual. This also stresses out the importance of investigating the peripheral energy and oxidative stress metabolic pathways in the search of biomarkers of ADHD.

scholarly journals Volumetric Quantification and Quality of Water Stored in a Mining Lake: A Case Study at Reocín Mine (Spain)

Minerals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 212
Author(s):  
Noemí Barral ◽  
Raúl Husillos ◽  
Elena Castillo ◽  
Manuel Cánovas ◽  
Elizabeth J. Lam ◽  
...  
Keyword(s):  
Human Consumption ◽  
Business Opportunity ◽  
Manganese Zinc ◽  
Quality Of Water ◽  
New Business ◽  
Volumetric Quantification ◽  
Zinc Mine ◽  
Iron Manganese

This study deals with the potential use of water stored in a lake formed by Reocín’s old zinc mine, which has become the second most important reservoir in Cantabria, with a flow of 1300 L s−1. The methodology used is based on the hydrogeological and hydrochemical characterization of the area studied. A total of 16 piezometers were installed to monitor the amount and quality of water. Results obtained show a pH close to 8 and iron, manganese, zinc, and sulphate concentrations lower than 0.05 mg L−1, 0.05 mg L−1, 1.063 mg L−1, and 1305.5 mg L−1, respectively. The volume of the water stored in the lake amounts to 34 hm3. Measurements show that Fe, Mn, and Zn concentrations are below the limits acceptable for human consumption, according to the Spanish 0.2, 0.05, and 5.0 mg L−1 standards, respectively, while sulphate greatly exceeds the 250 mg L−1 limit accepted by the norm. Therefore, the water could be apt for human consumption after a treatment appropriate for decreasing the sulphate level by, for example, reverse osmosis, distillation, or ion exchange. Although industrial and energy uses are possible, the lake water could be utilized as a geothermal energy source. The management of the hydric resources generated when a mine is closed could improve the economic and environmental conditions of the zone, with all the benefits it brings about, thus allowing for compensating of the pumping cost that environmental protection entails, creating, at the same time, a new business opportunity for the company that owns the mine.

Copper, Iron, Manganese, Zinc, Cobalt, Arsenic, Cadmium, Chrome, and Lead Concentrations in Liver and Muscle in Iranian Camel (Camelus dromedarius)

2019 ◽  
Vol 194 (2) ◽  
pp. 390-400
Author(s):  
Mehdi Asli ◽  
Mohammad Azizzadeh ◽  
Amir Moghaddamjafari ◽  
Mohammad Mohsenzadeh
Keyword(s):  
Camelus Dromedarius ◽  
Manganese Zinc ◽  
Iron Manganese

scholarly journals Effects upon metabolic pathways and energy production by Sb(III) and As(III)/Sb(III)-oxidase gene aioA in Agrobacterium tumefaciens GW4

PLoS ONE ◽  
2017 ◽  
Vol 12 (2) ◽  
pp. e0172823 ◽  
Author(s):  
Jingxin Li ◽  
Birong Yang ◽  
Manman Shi ◽  
Kai Yuan ◽  
Wei Guo ◽  
...  
Keyword(s):  
Agrobacterium Tumefaciens ◽  
Metabolic Pathways ◽  
Energy Production ◽  
Oxidase Gene

Physiology and Clinical Relevance of Enlarged Perivascular Spaces in the Aging Brain

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000013077
Author(s):  
Corey W Bown ◽  
Roxana O Carare ◽  
Matthew S Schrag ◽  
Angela L Jefferson
Keyword(s):  
Fluid Transport ◽  
Small Vessel Disease ◽  
Treatment Strategies ◽  
Small Vessel ◽  
Aging Brain ◽  
Perivascular Spaces ◽  
Vessel Disease ◽  
Clinical Consequences ◽  
The Brain

Perivascular spaces (PVS) are fluid filled compartments that are part of the cerebral blood vessel wall and represent the conduit for fluid transport in and out of the brain. PVS are considered pathologic when sufficiently enlarged to be visible on magnetic resonance imaging. Recent studies have demonstrated that enlarged PVS (ePVS) may have clinical consequences related to cognition. Emerging literature points to arterial stiffening and abnormal protein aggregation in vessel walls as two possible mechanisms that drive ePVS formation. In this review, we describe the clinical consequences, anatomy, fluid dynamics, physiology, risk factors, and in vivo quantification methods of ePVS. Given competing views of PVS physiology, we detail the two most prominent theoretical views and review ePVS associations with other common small vessel disease markers. As ePVS are a marker of small vessel disease and ePVS burden is higher in Alzheimer’s disease, a comprehensive understanding about ePVS is essential in developing prevention and treatment strategies.

CRYPTIC CAUSES AND MECHANISMS INVOLVED IN AGEING

INDIAN DRUGS ◽  
2013 ◽  
Vol 50 (01) ◽  
pp. 5-22
Author(s):  
K Challabotla ◽  
◽  
D Banji ◽  
O.J.F Banji ◽  
Chilipi K Reddy
Keyword(s):  
Oxidative Stress ◽  
Developing Countries ◽  
Molecular Basis ◽  
Metabolic Disorders ◽  
Natural Process ◽  
Biological Functions ◽  
Stress Theory ◽  
Biochemical Alterations ◽  
Organ Systems ◽  
The Brain

Ageing is a natural process characterized by progressive deterioration of biological functions. Ageing causes both morphological as well as biochemical alterations in various body organs leading to deterioration of health. Proteins, enzymes and neurotransmitters are affected, which in turn can result in dysregulation of various pathways. WHO has reported that by 2020, three quarters of all deaths in developing countries will be age-associated. Currently more than 300 theories exist to explain the phenomenon of ageing; amongst them the oxidative stress theory of ageing is most studied and accepted for the molecular basis of ageing. All these processes can progress at an unprecedented pace on contact with triggering factors, leading to the development of pathological ageing. The probability of developing neurodegenerative and metabolic disorders is relatively high under such circumstances. This review emphasizes the theories and mechanisms of ageing and an overview on the aspects of age associated biochemical changes and the implications on the brain, liver and various organ systems.

scholarly journals Proopiomelanocortin, a polypeptide precursor with multiple functions: from physiology to pathological conditions

2003 ◽  
Vol 149 (2) ◽  
pp. 79-90 ◽  
Author(s):  
ML Raffin-Sanson ◽  
Y de Keyzer ◽  
X Bertagna
Keyword(s):  
Anterior Pituitary ◽  
Energy Homeostasis ◽  
Molecular Mechanisms ◽  
Single Gene ◽  
Local Production ◽  
Biological Functions ◽  
Multiple Functions ◽  
Pathological Conditions ◽  
Recent Developments ◽  
The Brain

Proopiomelanocortin (POMC) is the polypeptide precursor of ACTH. First discovered in anterior pituitary corticotroph cells, it has more recently been revealed to have many other physiological aspects. The fine molecular mechanisms of ACTH biosynthesis show that ACTH is but one piece of a puzzle which contains many other peptides. Present in various tIssues, among which are pituitary, hypothalamus, central nervous system and skin, POMC undergoes extensive post-translational processing. This processing is tIssue-specific and generates, depending on the case, various sets of peptides involved in completely diverse biological functions. POMC expressed in corticotroph cells of the pituitary is necessary for adrenal function. Recent developments have shown that POMC-expressing neurons in the brain play a major role in the control of pain and energy homeostasis. Local production of POMC-derived peptides in skin may influence melanogenesis. A still unknown function in the placenta is likely.POMC has become a paradigmatic polypeptide precursor model illustrating the variable roles of a single gene and its various products in different localities.

scholarly journals CHEMICAL COMPOSITION OF WHOLE GRAINS IN COMMON BEANS LANDRACES AND BREEDING GENOTYPES

2015 ◽  
Vol 2 ◽  
pp. 81 ◽  
Author(s):  
Gilberto Antonio Peripolli Bevilaqua ◽  
Iraja Ferreira Antunes
Keyword(s):  
Nutritional Composition ◽  
Whole Grain ◽  
Breeding Programs ◽  
Breeding Lines ◽  
Manganese Zinc ◽  
Nutritional Characteristics ◽  
Calcium Magnesium ◽  
The Common ◽  
Iron Manganese ◽  
Insoluble Fiber

The common bean has been object of breeding programs aiming the development of new cultivars adapted to varied production system and shown differentiated nutritional characteristics. Due a genetic diversity existent the landraces can be used directly for cropping, for present characteristics desirable. Little information exists about mineral content and other quality traits for those bean landraces. The aim of this paper was to verify the variability for grain nutricional caracters in breeding cultivars and landraces of bean from Rio Grande do Sul state, Brazil. The experiment was conducted in 2009/2010 in Experimental Station Cascata, of Embrapa Temperate Agriculture. In whole grain of 54 bean genotypes with black and no black coat were determined macroelements (nitrogen, phosphorus, potash, calcium, magnesium and sulfur), oligoelements (iron, manganese, zinc and cuprum), protein and ash content, insoluble fiber, digestive nutrient and antioxidant astragalina. The results shown that the landraces varieties presents nutritional composition of macro and oligoelements, fibers, protein and ash contents in whole grain similar than that of breeding lines and cultivars. The black coat grain from breeding programs showed better nutritional quality for macro and oligoelements content than coloured grain, highlighting TB 02-04 e TB 01-01. The landraces with coloured grains TB 02-26, TB 02-24 and TB 03-13 showed the high levels of astragaline.

Accumulation of Iron, Manganese, Zinc and Cadmium by the Australian Freshwater Mussel Velesunio ambiguus (Phillipi) and Its Potential as a Biological Monitor

1979 ◽  
Vol 30 (6) ◽  
pp. 741 ◽  
Author(s):  
WG Jones ◽  
KF Walker
Keyword(s):  
Body Weight ◽  
South Australia ◽  
Freshwater Mussel ◽  
Short Term ◽  
Manganese Zinc ◽  
Systematic Relationships ◽  
Iron Manganese ◽  
Australian Freshwater ◽  
Iron Concentrations

The accumulation of iron, manganese, zinc and cadmium by freshwater mussels in the River Murray, South Australia, and their response to changes in environmental iron concentrations are considered. Metal loads varied markedly between individuals from the same population. The variability is accounted for partly by systematic relationships between metal loads and body weight and age, but not sex. The distribution of metals between the major organs is discussed, but the analysis of separate organs showed no advantage for biological monitoring. Comparisons between iron concentrations in river water and in mussels showed no clear correspondence. The study suggests that V. ambiguus may not be a good short-term monitor of iron, but still may have potential as a long-term and site-comparison monitor of metals. once inherent variability is taken into account.

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