Related Concept Videos
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:27Protein Import into the Peroxisomes
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
01:16Drug toxicity: Idiosyncratic Reactions
Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...
01:25Jaundice
Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
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Inborn errors of copper metabolism.
1Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.
Handbook of Clinical Neurology
|April 30, 2013
Summary
Copper ATPases ATP7A and ATP7B are crucial for human copper balance. Mutations cause distinct neurological disorders like Menkes disease and Wilson disease, some treatable with copper therapy or gene editing.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Copper homeostasis in mammals relies on two key ATPases: ATP7A for uptake and delivery, and ATP7B for liver excretion.
- Mutations in ATP7A lead to X-linked disorders including Menkes disease, OHS, and distal motor neuropathy, presenting with varied neurological symptoms and onset ages.
- Mutations in ATP7B cause Wilson disease, an autosomal recessive disorder of copper overload with distinct neurological and psychiatric manifestations.
Purpose of the Study:
- To review the roles of ATP7A and ATP7B in mammalian copper metabolism.
- To delineate the spectrum of genetic disorders arising from mutations in ATP7A and ATP7B.
- To highlight recent discoveries in autosomal recessive copper metabolism conditions.
Main Methods:
Main Results:
- ATP7A mutations result in Menkes disease, OHS, and X-linked distal motor neuropathy, each with unique clinical presentations and ages of onset.
- ATP7B mutations cause Wilson disease, characterized by copper overload and neurological symptoms typically appearing in adolescence or adulthood.
- Three novel autosomal recessive conditions (Huppke-Brendel, CCS deficiency, MEDNIK syndrome) linked to copper metabolism have been identified.
Conclusions:
- Disorders of copper metabolism, particularly those involving ATP7A and ATP7B, present a range of neurological phenotypes.
- Early diagnosis and targeted therapies, such as copper replacement or chelation, are crucial for managing these conditions.
- Ongoing research continues to uncover new genetic factors influencing copper homeostasis and related diseases.