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Related Concept Videos

Translation01:31

Translation

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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
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Translation01:31

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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.
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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...
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Lysosomal Hydrolases01:22

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Daniele Mandia1, Metodi D Metodiev2, Jean-François Benoist3

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Summary
This summary is machine-generated.

Genetic defects in MRPS genes cause rare adult-onset neurological disorders. These mitoribosomal protein defects lead to severe neurological symptoms and cerebral folate deficiency, treatable with folinic acid.

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Area of Science:

  • Genetics
  • Neuroscience
  • Mitochondrial Biology

Background:

  • Mitochondrial ribosomal protein (MRPS) genes are essential for mitochondrial translation and oxidative phosphorylation.
  • Previously, MRPS gene defects were not linked to adult-onset neurological diseases.
  • Mitochondrial dysfunction is implicated in various neurological conditions.

Purpose of the Study:

  • To investigate the role of MRPS genes in adult-onset neurological disorders.
  • To identify genetic causes for unexplained neurological conditions.
  • To characterize the clinical and functional consequences of MRPS gene variants.

Main Methods:

  • Whole Genome Sequencing in adult patients with unexplained neurological symptoms.
  • Functional studies on patient-derived fibroblasts assessing mitochondrial translation and oxidative phosphorylation.
  • Clinical phenotyping including neurological examination, brain MRI, and cerebrospinal fluid (CSF) analysis.

Main Results:

  • Bi-allelic pathogenic variants in MRPS22, MRPS23, and MRPS34 identified in four unrelated patients.
  • Patients presented with complex neurological phenotypes: cerebellar ataxia, motor neuropathy, pyramidal syndrome, and leukoencephalopathy.
  • Observed were elevated CSF protein and profound cerebral folate deficiency, with impaired mitochondrial translation and oxidative phosphorylation defects.

Conclusions:

  • MRPS gene defects cause a spectrum of adult-onset mitochondrial neurological disorders.
  • Distinctive features include leukoencephalopathy, high CSF protein, and cerebral folate deficiency.
  • Folinic acid treatment demonstrated clinical and radiological improvement, normalizing folate levels.