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Träfflista för sökning "WFRF:(Holme Elisabeth 1947 ) "

Sökning: WFRF:(Holme Elisabeth 1947 )

  • Resultat 1-10 av 42
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1.
  • Blomquist, H K, et al. (författare)
  • Glycerol kinase deficiency in two brothers with and without clinical manifestations.
  • 1996
  • Ingår i: Clinical genetics. - 0009-9163 .- 1399-0004. ; 50:5, s. 375-9
  • Tidskriftsartikel (refereegranskat)abstract
    • We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.
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3.
  • Houshmand, Massoud, et al. (författare)
  • Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
  • 2004
  • Ingår i: Neuromuscular disorders : NMD. - 0960-8966. ; 14:3, s. 195-201
  • Tidskriftsartikel (refereegranskat)abstract
    • Large-scale heteroplasmic mtDNA rearrangements were identified in a 57-year-old woman with chronic depressive disorder, hearing-loss, diabetes mellitus and a slowly progressive encephalomyopathy. A high percentage of a 24.2 kb duplicated molecule was found in lymphocytes whereas the corresponding deletion dimer dominated in muscle. PCR and Southern blot analyses were used to identify a 7658 bp duplication/deletion fragment. The duplicated mtDNA disrupted the cytochrome oxidase subunit I and cytochrome b genes at a position where there were no direct repeats. Duplicated mtDNA was not observed in the mother and brother of the patient. Histochemical analysis of skeletal muscle demonstrated pathological accumulation of mitochondria in cytochrome c oxidase negative fibers. In situ hybridization demonstrated only deleted mtDNA in cytochrome c oxidase negative fibres. We conclude that occurrence of deleted mtDNA correlates with phenotypic expression and that the duplicated mtDNA might serve as a generator of deletions, but is not directly pathogenic.
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4.
  • Kollberg, Gittan, 1963, et al. (författare)
  • Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
  • 2007
  • Ingår i: The New England journal of medicine. - 1533-4406. ; 357:15, s. 1507-14
  • Tidskriftsartikel (refereegranskat)abstract
    • Storage of glycogen is essential for glucose homeostasis and for energy supply during bursts of activity and sustained muscle work. We describe three siblings with profound muscle and heart glycogen deficiency caused by a homozygous stop mutation (R462-->ter) in the muscle glycogen synthase gene. The oldest brother died from sudden cardiac arrest at the age of 10.5 years. Two years later, an 11-year-old brother showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising; a 2-year-old sister had no symptoms. In muscle-biopsy specimens obtained from the two younger siblings, there was lack of glycogen, predominance of oxidative fibers, and mitochondrial proliferation. Glucose tolerance was normal.
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5.
  • Kollberg, Gittan, 1963, et al. (författare)
  • POLG1 mutations associated with progressive encephalopathy in childhood.
  • 2006
  • Ingår i: Journal of neuropathology and experimental neurology. - 0022-3069 .- 1554-6578. ; 65:8, s. 758-68
  • Tidskriftsartikel (refereegranskat)abstract
    • We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families. The clinical features in 6 of the children included psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia compatible with Alpers-Huttenlocher syndrome. Three families harbored a previously reported A467T substitution, which was found in compound with the earlier described G848S or the W748S substitution or a novel R574W substitution. Two families harbored the W748S change in compound with either of 2 novel mutations predicted to give an R232H or M1163R substitution. Muscle morphology showed mitochondrial myopathy with cytochrome c oxidase (COX)-deficient fibers in 4 patients. mtDNA analyses in muscle tissue revealed mtDNA depletion in 3 of the children and mtDNA deletions in the 2 sibling pairs. Neuropathologic investigation in 3 children revealed widespread cortical degeneration with gliosis and subcortical neuronal loss, especially in the thalamus, whereas there were only subcortical neurodegenerative findings in another child. The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease.
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7.
  • Roos, Sara, 1979, et al. (författare)
  • Subnormal levels of POLgA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia
  • 2013
  • Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 22:12, s. 2411-2422
  • Tidskriftsartikel (refereegranskat)abstract
    • The POLG1 gene encodes the catalytic subunit of mitochondrial DNA (mtDNA) polymerase γ (POLγ). We here describe a sibling pair with adult-onset progressive external ophthalmoplegia, cognitive impairment and mitochondrial myopathy characterized by DNA depletion and multiple mtDNA deletions. The phenotype is due to compound heterozygous POLG1 mutations, T914P and the intron mutation c.3104 + 3A > T. The mutant genes produce POLγ isoforms with heterozygous phenotypes that fail to synthesize longer DNA products in vitro. However, exon skipping in the c.3104 + 3A > T mutant is not complete, and the presence of low levels of wild-type POLγ explains patient survival. To better understand the underlying pathogenic mechanisms, we characterized the effects of POLγ depletion in vitro and found that leading-strand DNA synthesis is relatively undisturbed. In contrast, initiation of lagging-strand DNA synthesis is ineffective at lower POLγ concentrations that uncouples leading strand from lagging-strand DNA synthesis. In vivo, this effect leads to prolonged exposure of the heavy strand in its single-stranded conformation that in turn can cause the mtDNA deletions observed in our patients. Our findings, thus, suggest a molecular mechanism explaining how POLγ mutations can cause mtDNA deletions in vivo.
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8.
  • Sofou, Kalliopi, et al. (författare)
  • Phenotypic and genotypic variability in Alpers syndrome.
  • 2012
  • Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - 1532-2130. ; 16:4, s. 379-89
  • Tidskriftsartikel (refereegranskat)abstract
    • Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1.
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9.
  • Baumann, Ulrich, et al. (författare)
  • Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma.
  • 2006
  • Ingår i: Journal of pediatric gastroenterology and nutrition. - 0277-2116. ; 43:1, s. 77-82
  • Tidskriftsartikel (refereegranskat)abstract
    • Despite the introduction of 2-(2-nitro-4-trifluormethyl-benzoyl)-1,3-cyclohexandion into the treatment of hereditary tyrosinemia type I (HT1), patients remain at risk of developing hepatocellular carcinoma (HCC). Serial total alpha-fetoprotein (AFP) levels are used to monitor the individual patient. Lectin-reactive alpha-fetoprotein (L3-AFP) is an AFP isoform that is expressed by malignant liver tumors. We investigated whether the analysis of L3-AFP could lead to earlier detection of HCC in HT1 compared with judgement based on total AFP alone. AFP electrophoresis using lectin-containing agarose gel identifies L3-AFP by the affinity of its specific carbohydrate chain to lectin. We report the retrospective analysis of sequential serum samples of 12 patients with HT1 and histologically proven HCC. AFP isoforms could be identified in all 12 patients. In 6 patients, the L3-AFP increased before the total AFP. In 3 patients, the rise in L3-AFP was parallel to the rise of total AFP; and in 3 patients, the L3-AFP was raised after the total AFP or did not increase at all. We were able to identify 6 of 12 patients with an early increase in the new tumor marker. Lectin-affinity electrophoresis may have a role in discriminating benign liver disease from HCC in HT1. We suggest the further evaluation of L3-AFP in HT1.
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10.
  • Björkman, Kristoffer, et al. (författare)
  • Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
  • 2015
  • Ingår i: Mitochondrion. - 1872-8278. ; 21, s. 33-40
  • Tidskriftsartikel (refereegranskat)abstract
    • We report clinical, metabolic, genetic and neuroradiological findings in five patients from three different families with isolated complex I deficiency. Genetic analysis revealed mutations in NDUFS1 in three patients and in NDUFV1 in two patients. Four of the mutations are novel and affect amino acid residues that either are invariant among species or conserved in their properties. The presented clinical courses are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. A literature review was performed, showing that patients with mutations in NDUFS1 in general have a worse prognosis than patients with mutations in NDUFV1.
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  • Resultat 1-10 av 42
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