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Animal and human studies have shown that copper is involved in the function of several enzymes. Studies have also shown that copper is required for infant growth, host defense mechanisms, bone strength, red and white cell maturation, iron transport, cholesterol and glucose metabolism, myocardial contractility, and brain development. Copper deficiency can result in the expression of an inherited defect such as Menkes syndrome or in an acquired condition. Acquired deficiency is mainly a pathology of infants; however, it has been diagnosed also in children and adults. Most cases of copper deficiency have been described in malnourished children. The most constant clinical manifestations of acquired copper deficiency are anemia, neutropenia, and bone abnormalities. Other, less frequent manifestations are hypopigmentation of the hair, hypotonia, impaired growth, increased incidence of infections, alterations of phagocytic capacity of the neutrophils, abnormalities of cholesterol and glucose metabolism, and cardiovascular alterations. Measurements of serum copper and ceruloplasmin concentrations are currently used to evaluate copper status. These indexes are diminished in severe to moderate copper deficiency; however, they are less sensitive to marginal copper deficiency. Erythrocyte superoxide dismutase and platelet cytochrome c activities may be more promising indexes for evaluating marginal copper deficiency.…

PMID: 8615366

In immature wild savannah baboons (Papio cynocephalus), we observed symptoms consistent with copper (Cu) deficiency and, more specifically, with a disorder referred to as white monkey syndrome (WMS) in laboratory primates. The objectives of this study were to characterize this pathology, and test three hypotheses that (1) Cu deficiency may have been induced by zinc (Zn) toxicity, (2) it may have been induced by molybdenum (Mo) toxicity, and (3) cumulative rainfall during the perinatal period and particularly during gestation is an ecological factor distinguishing infants afflicted with WMS from non-WMS infants. During 2001-2009, we observed 22 instances of WMS out of a total 377 live births in the study population. Visible symptoms exhibited by WMS infants included whitening of the animal's fur and/or impaired mobility characterized by an apparent "stiffening" of the hindlimbs. Occurrence of WMS did not vary significantly by gender. However, among individuals that survived at least 180 days, WMS males had a significantly lower survivorship probability than non-WMS males. Zn/Cu ratios assessed from hair samples of adult female baboons were higher in females who had produced at least one WMS offspring relative to females who had not had a WMS offspring. This was true even when the hair sample was collected long after the birth of the female's afflicted infant. We consider this potentially indicative of a robust tendency for low Cu levels induced by elevated Zn intake in some individuals. No significant differences of Mo/Cu ratios were observed. Cumulative rainfall during gestation (∼179 days) was 50% lower for WMS infants relative to non-WMS infants. In contrast, rainfall for the two classes of infants did not differ in the 180 days before conception or in the 180 days following birth. This finding highlights the importance of prenatal ecological conditions in healthy fetal development with regard to WMS.…

PMID: 21898510

Menkes disease is an X-linked recessive genetically inherited metabolic disease caused by an ATP7A gene abnormality that gives rise to impaired copper absorption. Copper deficiency causes symptoms such as characteristic abnormalities in the hair and vascular disorders. Brain MRI findings include a high-signal intensity in the temporal lobe white matter on T2-weighted images and delayed myelination. Intracranial arterial tortuosity seen on brain MR angiography (MRA) is one of the characteristic features of this disease. We report two cases with similar MRI findings visualized as flow voids in tortuous arteries near the central sulcus. The findings from these cases indicate that, on MRI in children, attention must be paid to intracranial arterial flow voids in patients who have not undergone MRA, particularly when Menkes disease is not suspected based on the patient's clinical course. Moreover, the findings in these cases suggest Menkes disease, indicating that they may assist in establishing the diagnosis.…

PMID: 39717303

Mineral content of hair is affected by season, breed, hair color within and between breeds, sire, age and body location. Seasonal effects may be due to stage of growth of hair and to changes caused by perspiration, surface contamination and diet. Breed and sire effects on mineral content of hair complicate prediction of nutritional status based on hair analyses because, in many commercial cattle, neither breed nor sire is known. Hair from young animals may be lower in Zn, Mn and Fe, but is higher in Na, Ca, Cu and K than that from older animals. Pigmented hair apparently is higher in Ca, Mg, K and NA than white hair, but trace mineral concentrations are similar in hair of different colors. The effect of body location on mineral content of hair may be due to differences in surface contamination, differences in hair growth cycles and differences in texture of the hair. Concentrations of Ca, P and Cu in hair are not affected by dietary intake of these minerals. Zn and Se contents of hair may reflect dietary intake. Information on other required minerals in lacking. Pb, As and, possibly, Cd levels in hair may be related to dietary or environmental exposure. Because of the many factors that cause variation in mineral content of hair, hair analyses are not likely to be precise indicators of the mineral status of animals. Hair analyses may help to detect severe deficiencies of some required minerals or exposure to some heavy metals. However, if hair analyses are to be conducted, care must be taken to compare values from test animals with those from animals of similar breed, sex, season, sire and color. In addition, new hair growth should be analyzed, environmental contamination should be minimized and the hair samples should be cleaned before analyses.…

PMID: 7042673

<i>Moringa oleifera</i> Lam. (Moringaceae) is a species of tree with an increasing utility, occurring naturally mainly in Pakistan and northern India. <i>M. oleifera</i> is currently cultivated in Africa, South America, Asia and the Middle East. The usage of its leaves, seed oil, bark, fruits, flowers and roots has positive opinions of FDA (American Food and Drug Administration), EFSA (European Food Safety Authority) and CosIng (Cosmetic Ingredients database). The chemical composition of <i>M. oleifera</i> is dominated by: proteins (consisting mainly of amino acids such as arginine or serine), fatty acids (omega-3 and omega-6), vitamins (vitamin A, B and C and tocopherols), mineral salts (including several bioelements, such as calcium, magnesium, sodium, and potassium), valuable polyphenolic compounds from the group of phenolic acids (e.g., gallic acid, ferulic acid) and flavonoids (e.g., myricetin, rutoside, and kaempferol). The raw materials show antioxidant, hepatoprotective, anti-inflammatory and antimicrobial properties. Dietary supplements and alimentary products containing <i>M. oleifera</i> are recommended as health-promoting and "novel food" preparations. The main purpose of this work was a review of the latest scientific literature on <i>M. oleifera</i>, with particular emphasis on the studies focusing on its chemical composition, biological activity and safety. Moreover, the review tends to discuss the results of biotechnological studies using this material and the agronomical significance.…

PMID: 38370483

<i>Moringa oleifera</i> (MO), a nutritionally and pharmacologically potent species, is emerging as a sustainable candidate for applications across bioenergy, agriculture, textiles, pharmaceuticals, and biomedicine. This review explores recent advances in MO-based biotechnologies, highlighting novel extraction methods, green nanotechnology, and clinical trial findings. Although MO's resilience offers promise for climate-smart agriculture and public health, challenges remain in standardizing cultivation and verifying therapeutic claims. This work underscores MO's translational potential and the need for integrative, interdisciplinary research. MO is used in advanced materials, like electrospun fibers and biopolymers, showing filtration, antibacterial, anti-inflammatory, and antioxidant properties-important for the biomedical industry and environmental remediation. In textiles, it serves as an eco-friendly alternative for wastewater treatment and yarn sizing. Biotechnological advancements, such as genome sequencing and in vitro culture, enhance traits and metabolite production. MO supports green biotechnology through sustainable agriculture, nanomaterials, and biocomposites. MO shows potential for disease management, immune support, metabolic health, and dental care, but requires further clinical trials for validation. Its resilience is suitable for land restoration and food security in arid areas. AI and deep learning enhance Moringa breeding, allowing for faster, cost-effective development of improved varieties. MO's diverse applications establish it as a key element for sustainable development in arid regions.…

PMID: 40805688

Melanosomes are unique organelles in melanocytes that produce melanin, the pigment for skin, hair, and eye color. Tyrosinase is the essential and rate-limiting enzyme for melanin production, that strictly requires neutral pH for activity. pH maintenance is a result of the combinational function of multiple ion transport proteins. Thus, ion homeostasis in melanosomes is crucial for melanin synthesis. Defect of the ion transport system causes various pigmentation phenotypes, from mild effect to severe disorders such as albinism. In this review, we summarize the up-to-date knowledge of the ion transport system, such as transport function, structure, and the physiological roles and mechanisms of the ion transport proteins in melanosomes. In addition, we propose a model of melanosomal ion transport system-how the functional coupling of multiple transport proteins modulates and maintains ion homeostasis. We discuss melanin synthesis in terms of the ion transport system.…

PMID: 32333855

Tyrosinases are widely distributed in nature. They are copper-containing oxidases belonging to the type 3 copper protein family, together with catechol oxidases and haemocyanins. Tyrosinases are essential enzymes in melanin biosynthesis and therefore responsible for pigmentation of skin and hair in mammals, where two more enzymes, the tyrosinase-related proteins (Tyrps), participate in the pathway. The structure and catalytic mechanism of mammalian tyrosinases have been extensively studied but they are not completely understood because of the lack of information on the tertiary structure. The availability of crystallographic data of one plant catechol oxidase and one bacterial tyrosinase has improved the model of the three-dimensional structure of the active site of the enzyme. Furthermore, sequence comparison of tyrosinase and the Tyrps reveals that the three orthologue proteins share many key structural features, because of their common origin from an ancestral gene, although the specific residues responsible for their different catalytic capabilities have not been identified yet. This review summarizes our current knowledge of tyrosinase and Tyrps structure and function and describes the catalytic mechanism of tyrosinase and Dct/Tyrp2, which are better characterized.…

PMID: 19735457

Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. The MNK gene encodes a copper-transporting P-type ATPase, MNK, which is localized predominantly in the trans-Golgi network (TGN). The MNK protein relocates to the plasma membrane in cells exposed to elevated copper where it functions in copper efflux. A role for MNK at the TGN in mammalian cells has not been demonstrated. In this study, we investigated whether the MNK protein is required for the activity of tyrosinase, a copper-dependent enzyme involved in melanogenesis that is synthesized within the secretory pathway. We demonstrate that recombinant tyrosinase expressed in immortalized Menkes fibroblast cell lines was inactive, whereas in normal fibroblasts known to express MNK protein there was substantial tyrosinase activity. Co-expression of the Menkes protein and tyrosinase from plasmid constructs in Menkes fibroblasts led to the activation of tyrosinase and melanogenesis. This MNK-dependent activation of tyrosinase was impaired by the chelation of copper in the medium of cells and after mutation of the invariant phosphorylation site at aspartic acid residue 1044 of MNK. Collectively, these findings suggest that the MNK protein transports copper into the secretory pathway of mammalian cells to activate copper-dependent enzymes and reveal a second copper transport role for MNK in mammalian cells. These findings describe a single cell-based system that allows both the copper transport and trafficking functions of MNK to be studied. This study also contributes to our understanding of the molecular basis of pigmentation in mammalian cells.…

PMID: 11092760

Premature graying of hair (PGH) is a multifactorial condition defined by the graying of hair before the age of 20 in Caucasians and before the age of 30 in African Americans. Although the etiology remains unknown, it has been associated with genetic predisposition, oxidative stress, nutritional deficiencies, and autoimmune diseases. Current treatment options are limited but can include anti-inflammatory medications, vitamins, and hair colorants for symptom control. In this report, we present a case of premature graying in a 32-year-old male, onset at age 15, exhibiting a distinctive fractal pattern. This case represents a unique instance of PGH characterized by an unusual pattern, necessitating further investigation into potential etiological factors and underlying pathophysiological mechanisms.…

PMID: 38854262

Aging is an inevitable natural process, with gray hair being one of its most visible signs. Hair graying holds psychosocial importance and is an excellent model for studying human pigmentation and aging in an accessible mini-organ. This phenomenon results from decreased melanin production in hair follicles, influenced by genetic, environmental, and lifestyle factors. Gray hair often poses aesthetic concerns and can be accelerated by environmental stressors, lifestyle choices, and nutritional deficiencies. Given the variation in onset and prevalence of gray hair, this study explores the underlying biological factors-namely, genetics, oxidative stress, and hormonal changes-to inform better prevention and treatment strategies. Recent advancements in prevention and treatment, such as topical melanin stimulants, antioxidants, dietary supplements, and low-level laser therapy (LLLT), offer promising approaches to managing gray hair. Understanding gray hair comprehensively-encompassing biological, psychological, and social dimensions-provides valuable insights into the aging process and can enhance overall well-being while addressing the stigma associated with aging. Our comprehensive analysis reveals that while graying correlates with certain health conditions, its primary significance is physiological rather than pathological. This understanding is essential for healthcare providers and the public to approach graying with scientific objectivity rather than social prejudice.…

PMID: 40546989

Premature hair graying (PHG) is the early loss of natural hair color, influenced by genetic, biological, and environmental factors. This review discusses the significant psychological impacts of PHG and explores its underlying mechanisms, related health conditions, and available treatments. The review examines the roles of genetics, oxidative stress, and lifestyle factors such as smoking and diet in premature graying. It also considers associated medical conditions and current and emerging treatment options. This overview aims to improve understanding of PHG and its broader implications.…

PMID: 39697103

Myelopathy may occur as a consequence of various metabolic and toxic conditions. This article provides an update on the clinical presentations, diagnostic evaluations, and management of metabolic and toxic myelopathies. Myelopathy and myeloneuropathy due to vitamin B12 deficiency is increasing in prevalence partly because of an aging population. Early recognition of the clinical symptoms and rapid initiation of treatment is essential. Copper deficiency is now also recognized as causing a similar clinical picture as vitamin B12 deficiency. Conditions leading to copper deficiency include bariatric surgery and excessive zinc intake. Unusual conditions such as lathyrism and konzo are relevant to all neurologists because of emigration from less well-developed countries. Myelopathy can also occur from substance abuse (eg, heroin and nitrous oxide), and early diagnosis could lead to improved patient outcomes. The spinal cord may also be injured in decompression illness that occurs in sport divers and individuals who work in pressurized atmospheres. Knowledge and recognition of the various metabolic and toxic causes of myelopathy is important for the practicing neurologist, as timely diagnosis and rapid initiation of therapy is essential to improve the chances for recovery.…

PMID: 29613894