molybdenum-cofactor and Neurodegenerative-Diseases

molybdenum-cofactor has been researched along with Neurodegenerative-Diseases* in 2 studies

Other Studies

2 other study(ies) available for molybdenum-cofactor and Neurodegenerative-Diseases

ArticleYear
A Turkish case with molybdenum cofactor deficiency.
    Nucleosides, nucleotides & nucleic acids, 2006, Volume: 25, Issue:9-11

    Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222 of MOCS1A. The parents, his brother and his sister who did not have any symptoms were heterozygous for the same mutation. This region was highly conserved in various species. The N-terminal part of MOCS1 a protein is suggested to form the central core of the protein and be composed of an incomplete [(alpha/beta)6] triosephosphate isomerase (TIM) barrel with a lateral opening that is covered by the C-terminal part of the protein. The insertion is located in the loop connecting the fifth beta strand to the sixth alpha helices of the TIM barrel structure. This arginine insertion would induce the conformation change and the lack of the activity.

    Topics: Arginine; Carbon-Carbon Lyases; Carrier Proteins; Child; Coenzymes; Heterozygote; Homozygote; Humans; Male; Membrane Proteins; Metalloproteins; Molybdenum Cofactors; Mutation; Neurodegenerative Diseases; Nuclear Proteins; Nucleotidyltransferases; Protein Structure, Secondary; Pteridines; Sequence Analysis, DNA; Sulfurtransferases

2006
New insights into the neuropathogenesis of molybdenum cofactor deficiency.
    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2002, Volume: 29, Issue:1

    Molybdenum cofactor deficiency (MOCOD) is a rare, progressive neurodegenerative disorder caused by sulphite oxidase enzyme deficiency. The neuropathological findings are consistent with a toxic insult to the brain that causes severe neuronal loss, reactive astrogliosis and spongiosis. The mechanisms responsible for these changes are unknown.. The case is a male infant with MOCOD who died at nine months of age from pneumonia. At autopsy, a complete neuropathological examination was performed including conventional immunohistochemical staining. In addition, brain sections were stained cytochemically with shikata and orcein which stain for disulphide bonds. The elemental composition of cortical cells was then analyzed in the scanning electron microscope using backscatter electron imaging and energy dispersive X-ray spectrometry.. Neurons demonstrated cytoplasmic staining with shikata and orcein cytochemically when compared to control sections. Energy dispersive X-ray spectrometry analysis of these neurons confirmed the presence of excess sulphur and unexpectedly revealed excess magnesium accumulation. None of these findings was found in an age-matched control.. In MOCOD we found abnormal accumulation of sulphur and magnesium in neurons. It is postulated that sulphur-containing compound(s) that are formed as a result of MOCOD cause excitotoxic neuronal injury in the presence of excess magnesium.

    Topics: Autopsy; Coenzymes; Humans; Immunohistochemistry; Infant; Magnesium; Male; Metalloproteins; Molybdenum Cofactors; Neurodegenerative Diseases; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Spectrometry, X-Ray Emission; Sulfur

2002
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