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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Inborn Errors of Metabolism01:20

Inborn 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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genetic Lingo01:11

Genetic Lingo

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Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

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Comparative studies of CDP-diacylglycerol synthase in rat liver mitochondria and microsomes.

Biochemistry and cell biology = Biochimie et biologie cellulaire·1993
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CDP-diacylglycerol synthesis in rat liver mitochondria.

FEBS letters·1992
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Biosynthesis of phosphatidic acid by glycerophosphate acyltransferases in rat liver mitochondria and microsomes.

Biochemistry and cell biology = Biochimie et biologie cellulaire·1990
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Examination of the potential role of the glycerophosphorylcholine (GPC) pathway in the biosynthesis of phosphatidylcholine by liver and lung.

Biochimica et biophysica acta·1989
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Cell-free synthesis of a putative precursor to the rat liver mitochondrial glycerol-3-phosphate dehydrogenase.

The Journal of biological chemistry·1988
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Characterization of CDPdiacylglycerol hydrolase in mitochondrial and microsomal fractions from rat lung.

Biochemistry and cell biology = Biochimie et biologie cellulaire·1988

Related Experiment Video

Updated: Jun 14, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Biochemical Genetics and Mental Retardation.

W C McMurray

    Canadian Medical Association Journal
    |March 24, 2010
    PubMed
    Summary

    A new metabolic defect, citrullinuria, was identified in a mentally retarded child. This genetic disorder causes high citrulline levels, and dietary changes did not lower blood concentrations.

    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Review of genetically determined biochemical lesions causing mental retardation.
    • 22 inborn errors of metabolism with mental defect identified, 12 in the last decade.
    • Advances in diagnosis and therapy offer promising avenues for research.

    Purpose of the Study:

    • To identify novel metabolic defects associated with mental retardation.
    • To characterize a newly detected metabolic disorder, citrullinuria.

    Main Methods:

    • Screening program for amino aciduria.
    • Biochemical analysis of urine, blood, and cerebrospinal fluid.
    • Assessment of dietary protein intake impact on metabolite levels.

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    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

    Published on: December 1, 2017

    Related Experiment Videos

    Last Updated: Jun 14, 2026

    Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
    07:38

    Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

    Published on: March 30, 2015

    Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions
    11:57

    Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions

    Published on: April 21, 2016

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
    08:22

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

    Published on: December 1, 2017

    Main Results:

    • Detection of a new metabolic defect, citrullinuria, in a mentally retarded child.
    • Characterized by 50- to 100-fold increased citrulline levels in urine, blood, and cerebrospinal fluid.
    • Excretion levels correlated with protein intake, but blood concentrations remained high despite dietary restrictions.

    Conclusions:

    • Citrullinuria represents a newly identified inborn error of metabolism linked to mental retardation.
    • The condition involves significantly elevated citrulline levels.
    • Dietary protein restriction is ineffective in reducing blood citrulline concentrations in this disorder.