• The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). (medlineplus.gov)
  • Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. (medlineplus.gov)
  • The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. (medlineplus.gov)
  • Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant tumor susceptibility syndrome, and the disease-related gene has been identified as fumarate hydratase (fumarase, FH ). (biomedcentral.com)
  • The disease-related gene has been identified as fumarate hydratase (fumarase, FH , Online Mendelian Inheritance in Man accession number 136850) located at 1q43. (biomedcentral.com)
  • Fumarate hydratase (FH), also known as fumarase , catalyses hydration of fumarate to malate and is found in mitochondria, where it performs in the Krebs cycle, and the cytosol, where it performs in the urea cycle and in catabolizing amino acids. (blogspot.com)
  • Defect is in the fumarate hydratase gene in the long arm of chromosome 1. (wikipedia.org)
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
  • FH gene mutations may interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. (medlineplus.gov)
  • Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM, Frank J, Poblete-Gutierrez P. Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. (medlineplus.gov)
  • Then, to disrupt the PDC1 gene on a yeast chromosome, an expression cassette having a L-lactate dehydrogenase gene in the downstream of these promoters was integrated into the PDC1 gene locus that had previously been mapped to the chromosome, and the production of large amounts of L-lactic acids was confirmed. (justia.com)
  • 2014). Genetic Heterogeneity of Hypomagnesemia, Seizures, and Mental Retardation HOMGSMR2 (618314) is caused by mutation in the ATP1A1 gene (182310) on chromosome 1p13. (nih.gov)
  • A confident genetic attempt getting HLRCC: Thus a change might have been imagined from the Fumarate Hydratase gene. (co.ke)
  • Autosomal" means that the alteration is using one of your own twenty two regular chromosomes rather than into a gender chromosome (X or Y). "Dominant" implies that with just one copy of one's changed gene is adequate to result in the diseases. (co.ke)
  • Fig 3a, Fumarate causes mitochondrial changes. (blogspot.com)
  • Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. (medlineplus.gov)
  • Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. (nih.gov)
  • These changes disrupt the ability of the enzyme to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. (medlineplus.gov)
  • Cells were treated for 8 days with solvent alone (vehicle) or with fumarate (200 or 400 uM MMF doses) then stained for DNA (green) and mitochondria (outer membrane protein TOM20, purple). (blogspot.com)
  • 32303) chromosome segregation and condensation protein%2C ScpB CP001857 CDS Arcpr_0039 complement(32287. (go.jp)
  • 32898) chromosome segregation and condensation protein ScpA CP001857 CDS Arcpr_0040 complement(32907. (go.jp)
  • 36314) chromosome segregation protein SMC CP001857 CDS Arcpr_0041 complement(36316. (go.jp)
  • Loss of heterozygosity at a locus on chromosome 8 in a high percentage of tumors from patients with prostate carcinoma has been detected and the area of minimal deletion on chromosome 8p12-21 determined. (nih.gov)
  • Treating cultured cells with a cell-permeable derivative of fumarate, monomethylfumarate (MMF), caused similar releases of mtDNA into the cytosol and expression of ISGs (Fig 3 Shown), strongly suggesting that the accumulation of fumarate causes the changes observed after loss of FH. (blogspot.com)
  • A region from the short arm of chromosome 8 (8p22) has been shown to be lost frequently in prostate tumors as well as prostate intraepithelial neoplasia (PIN). (grantome.com)
  • HLRCC is characterized by germline mutation of the tricarboxylic acid (TCA) cycle enzyme, fumarate hydratase (FH). (nih.gov)
  • The diagnosis of FH deficiency is established in a proband with reduced fumarate hydratase enzyme activity in fibroblasts or leukocytes and/or biallelic pathogenic variants in FH identified by molecular genetic testing . (nih.gov)
  • [ 3 ] This enzyme catalyzes the hydration of fumarate to form malate, a reaction that is part of the TCA cycle (Figure 2). (medscape.com)
  • These changes disrupt the ability of the enzyme to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. (medlineplus.gov)
  • While the pathogenetic mechanisms underlying the lesions remain unclear, it has been suggested that the accumulation of fumarate may lead to overexpression of the aldo-keto reductase enzyme, AKR1B10. (findzebra.com)
  • For example, deficiencies in fumarate hydratase (FH) in the Krebs cycle, one of the most important metabolic pathways in mitochondria, cause an aggressive form of kidney cancer in humans. (azolifesciences.com)
  • The diagnosis is made either by testing of the fumarate hydratase activity in cultured skin fibroblasts or lymphoblastoid cells and demonstrating reduced activity (≤60%) or by molecular genetic testing. (findzebra.com)
  • Multiple hits for the association of uterine fibroids on human chromosome 1q43. (cdc.gov)
  • Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. (cdc.gov)
  • FH loss leads to the accumulation of the molecule fumarate, which contributes to the development of cancer. (azolifesciences.com)
  • Loss of heterozygosity at a locus on chromosome 8 in a high percentage of tumors from patients with prostate carcinoma has been detected and the area of minimal deletion on chromosome 8p12-21 determined. (nih.gov)
  • Chromosome 7 trisomy (1/7), chromosome 17 trisomy (0/7) and chromosome Y deletion (0/5 male patients) were seldom detected in this tumor. (biomedcentral.com)
  • Given that the tumor exhibits a papillary morphology but only a minimal proportion of PRNRP was confirmed to present chromosome 7 trisomy, chromosome 17 trisomy or chromosome Y deletion, we suggest that it be classified as an independent subtype of renal cell neoplasm, distinguishable from PRCC. (biomedcentral.com)
  • 2001 Birt-Hogg-Dube Syndrome linked to chromosome 17p11.2. (nih.gov)
  • Families with HPRC have been evaluated and linkage analysis has localized the HPRC to a locus on chromosome 7. (nih.gov)
  • We have characterized the nonrandom duplication of the chromosome bearing the mutated Met in HPRC and demonstrated that this implicates this event in tumorigenesis. (nih.gov)
  • 9. Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies. (nih.gov)
  • Low-grade Oncocytic Fumarate Hydratase-deficient Renal Cell Carcinoma: An Update on Biologic Potential, Morphologic Spectrum, and Differential Diagnosis With Other Low-grade Oncocytic Tumors. (nih.gov)
  • Previous reports from our group suggested the preferential integration of the viral construct Ad5/SV40 at the short arm subtelomeric region of human chromosome 1. (westminster.ac.uk)
  • It has also been found that fumarate is present in the mitochondria and in the cytoplasm. (findzebra.com)
  • The study titled 'Fumarate induces vesicular release of mtDNA to drive innate immunity' was published in Nature . (azolifesciences.com)
  • The study 'Macrophage fumarate hydratase restrains mtRNA-mediated interferon production' was also published in the journal Nature. (azolifesciences.com)
  • Over 80% of the leiomyomas evaluated were found to have loss of heterozygosity in chromosome 1q. (medscape.com)
  • Cytogenetic alterations, including the gain of two or more of chromosome 7, 12, 16, 17, or 20 and loss of the Y chromosome in men, further distinguish PRC from clear cell RCC ( 4 ). (aacrjournals.org)
  • Alterations that are characteristic of clear cell RCC, such as loss of the short arm of chromosome 3, are not typically observed in PRC ( 2 - 5 ). (aacrjournals.org)
  • Fumarate has been shown to be a competitive inhibitor of prolyl hydroxylase. (findzebra.com)
  • Using a combination of high-resolution imaging techniques and precise biochemical experiments, the scientists have shown that fumarate causes mitochondrial damage. (azolifesciences.com)
  • 2023) Fumarate induces vesicular release of mtDNA to drive innate immunity. (azolifesciences.com)
  • Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1. (westminster.ac.uk)
  • Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. (medlineplus.gov)
  • because subclavian stenosis is back pain, stiffness, and may play a crucial role in the y chromosome i. (familytreecounseling.com)