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Thursday, December 14

  1. page MCADD References edited Resources: 1)A review article of Medium-Chain Acyl-Coenzyme A dehydrogenase Deficiency Dietric…

    Resources:
    1)A review article of Medium-Chain Acyl-Coenzyme A dehydrogenase Deficiency
    Dietrich
    Dietrich M., Piero R., Medium-Chain Acyl-Coenzyme
    ...
    Dehydrogenase Deficiency. (March 5, 2015) Retrieved from
    ...
    newborn screening.jpg}
    2) Research article: identified asymptomatic patients using newborn screening tests and confirmed the first Korean MCADD carriers of the common variant amongst Asians is a mutation at 843A>T known as the R281S mutant. Japanese being the other Asian race with confirmation of R281S mutant
    Hey in

    Hey In
    W., M.D., Hyung-Doo P., M.D., Yong-Wha L., M.D., Dong Hwan L., M.D., Chang-Seok K., M.D., Soo-Youn L., M.d., Jong-Won K., M.D.M.D.,et al. Clinical, Biochemical
    ...
    Dehydrogenase Deficiency. (Jan 26 2015) Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111034/pdf/kjlm-31-54.pdf
    3) MCADD prevalence statistics

    Oerton J., Khalid J., Besley G., Dalton R., Downing M., Green A., Henderson M., Krywawaych S., Leonard J., Andresen B., Dezateux C.et al. Newborn Screening
    ...
    Million Screened Babies. RtrievedBabies (Aug 26 2005). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1262676/
    Green N., et al. New Screening Complexities in Universal Genetic Testing (Oct 10 2011). Retrieved from
    http://ajph.aphapublications.org/doi/abs/10.2105/AJPH.2005.070300

    Directory:
    MCADD homepage
    (view changes)
    9:03 pm
  2. page Primary Research edited ... An overview of Medium Chain Acyl-Coenzyme A Dehydrogenase. Medium Chain Acyl-Coenzyme A Dehyd…
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    An overview of Medium Chain Acyl-Coenzyme A Dehydrogenase.
    Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Review Article
    MCADDReview article of Medium chain acyl-coenzyme A dehydrogenase deficiency. MCADD is an
    ...
    descent populations. Details of prevalence, newborn screening and genetic testing is reviewed here as well.
    Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
    {Clinical, Biochemical and Genetic Analyses in Two Korean Patients with.pdf}
    Abstract
    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid β-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we describe 2Two Korean pediatric cases of MCADD,MCADD were identified, which was
    ...
    molecular analysis. The levels of medium-chain acylcarnitines, including octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10), were typically elevated. Molecular studies
    ...
    (p.Y397N) mutations. We detected asymptomatic patients with MCADD by using a newborn screening test and confirmed it by ACADM mutation analysis. This report
    ...
    patients and, to the best of our knowledge, this is
    Directory:
    MCADD homepage
    (view changes)
    8:27 pm
  3. page Medium-chain acyl-CoA dehydrogenase (MCAD) Disorder edited ... Introduction The enzyme, medium chain acyl-coenzyme A dehydrogenase (MCAD) is responsible for…
    ...
    Introduction
    The enzyme, medium chain acyl-coenzyme A dehydrogenase (MCAD) is responsible for the dehydrogenation of fatty acids that undergo beta-oxidation in the mitochondria. MCAD specifically breaks down fatty acids of 6 to 12 carbon length into acetyl-CoA; which the acetyl group is delivered and processed through the citric acid cycle (Krebs cycle) to be oxidized for energy production.
    ...
    individuals with MCADD.MCADD (Dietrich M., 2015).
    MCADD is
    ...
    the R281S mutant.mutant (Oerton., et al 2005).
    {MCAD beta-oxidation
    ...
    and decanoylcarintine (C10).(C10)(Dietrich M., 2015). If levels
    {Autosomal Recessive Inheritence Chart.gif}
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    1:263,500 live births.births (Oerton J et al., 2005). These screenings
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    in undiagnosed carriers.carriers (Dietrich M., 2015).
    Genetic testing
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    would be 50%.50% (Green N., 2011)
    Treatment would be consulting a dietary plan with a dietitian.
    Directory:
    (view changes)
    8:18 pm
  4. page Wilson's Disease edited ... Wilson’s Disease (WD) is an autosomal recessive disease that is caused by a mutation in the AT…
    ...
    Wilson’s Disease (WD) is an autosomal recessive disease that is caused by a mutation in the ATP7B gene. This results in the accumulation of copper in the liver, brain, and eyes.
    Research question(s)
    How is Wilson’s Disease diagnosed?
    What are the treatment options?
    1. Are there better diagnostic techniques for Wilson's Disease?
    2. Is there a permanent cure for Wilson's Disease?

    Basic method of investigation: The literature research regarding Wilson’s disease was made with the help of National Center of Biotechnology Information (NCBI). Various bioinformatic tools were used to study more about the gene and protein related to Wilson’s disease such as: BLAST, MEGA, and STRING.
    Implication/future work:
    (view changes)
    7:16 pm
  5. page Discussion edited Alignment Analysis - Topology Analysis Medium-chain acyl-CoA Dehydrogenase enzyme Sequences ME…

    Alignment Analysis - Topology Analysis
    Medium-chain acyl-CoA Dehydrogenase enzyme Sequences
    MEGA7 protein sequence alignment
    All positions containing gaps and missing data were eliminated. There were a total of 373 positions in
    DISCUSSION:
    After producing
    the final data set. 386 total.
    MEGA7 nucleotide sequence alignment
    All positions containing gaps and missing data were eliminated. There were a total of 1149 positions in the final data set. There were 1400 positions total and the Homo sapien was sequence was mostly altered.
    Protein Phylogeny Trees (MCAD enzyme)
    -The MCAD enzyme
    phylogeny trees have strong bootstrap values and makes sense since they're all mammals and within the same class Mammalia, a clade of endothermic aminotes.
    Values over 80 = strong topology
    Protein Neighboring tree displayed below.
    {Protein tree Neighorbor joining method 3.PNG}
    Nucleotide Phylogeny Trees (ACADM gene)
    -The ACADM gene phylogeny trees did not show the same bootstrap values
    through bioinformatic identifications, it was observed that suggested strong topology as the protein sequences showed.
    Nucleotide Neighboring tree displayed below
    {Nucleotide tree (neighbor-joining method) 3.PNG}
    Across
    across species it
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    nucleotide sequences. Differences may beMCAD is a small protein of 386 residues, this is relative across the board for the selected species. The ACADM gene however diverges and varies to a greater margin, this is due to nonsense mutations butalterations/mutations that did not alter the proteins were very much so similar.
    Protein Model Portal - Structure Analysis
    When
    function and structure of the enzyme. Next was protein structure analysis and when comparing the
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    mutant is 99%
    {Protein model portal Mutant K304E comparison with wt.png}
    STRING - Protein Interaction Analysis
    Network stats for comparison
    each pathway can be selected and
    99%. Examining the corresponding proteins will be highlighted (Red)
    {STRING comparsion network stats.png}
    Upon clicking any
    protein interaction of the pathway ID's such as "fatty acid beta-oxidation" in Biological Process (GO), the gene setsMCAD between human and mouse, it was observed that assist in fatty acid beta-oxidation will be highlighted red. Both Homo sapiens & Mus musculusthey have the same 5 gene sets that aid in fatty acid-beta oxidation except PCCD (Propionyl CoA carboxylase, beta polypeptide) for Homo sapiensenzymes and ACSBG2 (acyl-CoA synthetase bubblegum family member 2) or Mus musculus - although both enzymes aremechanisms as each other in both Homo sapiens & Mus musculus.
    {STRING comparsion
    fatty acid beta oxidation network.png}
    After identifying which proteins are specifically involved in fatty acid beta-oxidation, the interaction paths may be selected and an info-panel will display with evidence suggesting a functional link - whether strong or weak. Higher scores suggest higher correlation.
    {STRING intersection comparison.png}
    Reviewing
    oxidation. Reviewing the protein
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    in MEGA7.
    {similiar proteins anywhere in STRING database.png}
    Conclusion:
    MCAD is a small protein of 386 residues, this is relative across the board for the selected species.
    The ACADM gene however diverges and varies to a greater margin, this is due to nonsense alterations/mutations that did not alter the function and structure of the enzyme.
    Homo sapiens & Mus musculus MCAD-protein interactions were almost exact depicting a large amount of fatty acid metabolism enzymes to share the same topology as both used MCAD as a node.
    The
    data suggests
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    are not. TheyMCAD deficiency mutations are single base-pair mutationsindividual cases and becomenot through evolution.
    MCADD homepage
    Primary Research
    (view changes)
    6:55 pm
  6. page CNL; Discussion edited Data Analysis; ... as well; bootstrap Tamura-Nei values were ... with lower Tamura-Nei va…
    Data Analysis;
    ...
    as well; bootstrapTamura-Nei values were
    ...
    with lower Tamura-Nei values on average and some species similarities either diverging or converging with others.
    From protein analysis, it appears that the proteins transcribed from these genes do not interact with each other, as shown in the protein interaction maps.
    Conclusions;
    (view changes)
    11:13 am
  7. page CNL; Discussion edited Data Analysis; ... were generally repetitive. The repetitive (meaning that genes were conserve…
    Data Analysis;
    ...
    were generally repetitive. Therepetitive (meaning that genes were conserved among similar species). These trends were relatively consistent among the genes investigated. Protein trees did vary from their respective gene trees, with lower
    From protein analysis, it appears that the
    proteins transcribed from these sequencesgenes do not
    Conclusions;
    All four genes investigated play some role in the progression of CNL. The CSF3R T618I mutation is most common in diagnosed patients, but mutations in the ASXL1, CALR and SETBP1 genes were also present in some cases, and contribute to the progression of CNL. The protein sequences of these genes are well preserved across species, while the nucleotide sequences are not. Most deviations are missense mutations, but still produce a similar protein.
    (view changes)
    11:12 am

Wednesday, December 13

  1. page WD References edited References References Cater, Michael A., et al. "Intracellular trafficking of the human…
    References
    References

    Cater, Michael A., et al. "Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites." Biochemical Journal 380.3 (2004): 805-813.
    Chen, Chen, et al. "Currently clinical views on genetics of Wilson's disease." Chinese medical journal 128.13 (2015): 1826.
    (view changes)
    6:52 pm

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