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Journal articles on the topic 'M129V Polymorphismus'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 February 2022

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1

Golanska, Ewa, Monika Sieruta, Elizabeth Corder, Sylwia M. Gresner, Anna Pfeffer, Malgorzata Chodakowska-Zebrowska, Tomasz M. Sobow, et al. "The prion protein M129V polymorphism." Prion 7, no. 3 (May 2013): 244–47. http://dx.doi.org/10.4161/pri.23903.

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2

Kosorinova, Dana, Girma Belay, Dana Zakova, Martin Stelzer, and Eva Mitrova. "Genetic Risk Factors of Creutzfeldt-Jakob Disease in the Population of Newborns in Slovakia." Pathogens 10, no. 4 (April 6, 2021): 435. http://dx.doi.org/10.3390/pathogens10040435.

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The most frequent human prion disease is Creutzfeldt–Jakob disease (CJD). It occurs as sporadic (sCJD), genetic (gCJD), iatrogenic (iCJD) form and as variant CJD. The genetic form represents about 10–15% of confirmed cases worldwide, in Slovakia as much as 65–75%. Focal accumulation of gCJD was confirmed in Orava region. The most common point mutation of the prion protein gene (PRNP) is E200K. CJD has a long asymptomatic phase and it is not known when the carriers of the mutation E200K become infectious. Precautions to prevent iCJD are focused especially on clinical CJD cases, but asymptomatic CJD-specific mutation carriers cannot be excluded, and represent a potential genetic CJD-risk group. The aim of this study was to determine the occurrence, frequency and geographic distribution of the E200K mutation among the newborns, comparing the areas of focal accumulation of gCJD with extra-focal ones, as well as distribution of the polymorphism M129V of the PRNP gene. A total of 2915 samples of dry blood spots from anonymous newborns were analyzed. We used RealTime PCR method to determine the presence of the E200K mutation and the M129V polymorphism. Genetic testing revealed 13 carriers of the E200K mutation. Investigation of the M129V polymorphism affirmed higher representation of methionine homozygotes (48% MM, 44% MV, 8% VV). Achieved results fully confirmed our previous observations concerning both the specific and nonspecific genetic CJD risk among the Slovak general population. The 48% of methionine homozygotes and 4 carriers of the E200K mutation among 1000 live-born children in Slovakia underline the benefits of genetic testing.

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3

Buchmann, Andreas, Christian R. A. Mondadori, Jürgen Hänggi, Amanda Aerni, Pascal Vrticka, Roger Luechinger, Peter Boesiger, et al. "Prion protein M129V polymorphism affects retrieval-related brain activity." Neuropsychologia 46, no. 9 (July 2008): 2389–402. http://dx.doi.org/10.1016/j.neuropsychologia.2008.03.002.

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4

Teupser, Daniel, Norman Heino, Wolfgang Wilfert, and Joachim Thiery. "Rapid detection of the prion protein M129V polymorphism with the LightCycler." Journal of Neuroscience Methods 115, no. 1 (March 2002): 93–96. http://dx.doi.org/10.1016/s0165-0270(02)00008-0.

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5

Palmirotta, Raffaele, Giorgia Ludovici, Gabriella Egeo, Cristiano Ialongo, Cinzia Aurilia, Luisa Fofi, Maria Laura De Marchis, David Della-Morte, Piero Barbanti, and Fiorella Guadagni. "Prion Protein Gene M129V Polymorphism and Variability in Age at Migraine Onset." Headache: The Journal of Head and Face Pain 53, no. 3 (February 13, 2013): 540–45. http://dx.doi.org/10.1111/head.12043.

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6

Vega, Ana, Clara Ruiz-Ponte, Ángel Carracedo, and Francisco Barros. "Rapid Genotyping of the M129V Polymorphism of Prion Protein Using Real-Time Fluorescent PCR." Clinical Chemistry 47, no. 10 (October 1, 2001): 1874–75. http://dx.doi.org/10.1093/clinchem/47.10.1874.

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7

Dyrbye, Henrik, Helle Broholm, Morten Hanefeld Dziegiel, and Henning Laursen. "The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population." European Journal of Epidemiology 23, no. 1 (November 7, 2007): 23–27. http://dx.doi.org/10.1007/s10654-007-9197-z.

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8

Scholz, Sonja W., Georgia Xiromerisiou, Hon C. Fung, Johanna Eerola, Olli Hellström, Alexandros Papadimitriou, Georgios M. Hadjigeorgiou, et al. "The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations." Neuroscience Letters 395, no. 3 (March 2006): 227–29. http://dx.doi.org/10.1016/j.neulet.2005.10.081.

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9

Dorigo-Zetsma, J. Wendelien, Berry Wilbrink, Jacob Dankert, and Sebastian A. J. Zaat. "Mycoplasma pneumoniae P1 Type 1- and Type 2-Specific Sequences within the P1 Cytadhesin Gene of Individual Strains." Infection and Immunity 69, no. 9 (September 1, 2001): 5612–18. http://dx.doi.org/10.1128/iai.69.9.5612-5618.2001.

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ABSTRACT Mycoplasma pneumoniae strains traditionally are divided into two types, based on sequence variation in the P1 gene. Recently, however, we have identified 8 P1 subtypes by restriction fragment length polymorphism analysis. In the present study the P1 gene sequences of three P1 type 1 and two P1 type 2 M. pneumoniae strains were analyzed. A new P1 gene sequence in a type 1 strain with partial similarity to a recently reported variable region in the P1 gene of an M. pneumoniae type 2 strain (T. Kenri, R. Taniguchi, Y. Sasaki, N. Okazaki, M. Narita, K. Izumikawa, M. Umetsu, and T.Sasaki, Infect. Immun. 67:4557–4562, 1999) was identified. In addition, the P1 gene of the type 1 strain contained another region with nucleotide polymorphisms identical to a stretch in the P1 gene of one of our type 2 strains. These findings indicate that recombination between sequences specific for P1 type 1 and type 2 had occurred and that P1 type 1 and type 2 hybrid sequences can be present within the P1 gene of an individual strain. Identical or nearly identical variable P1 gene sequences were present in several repetitive regions outside the P1 gene locus in the genome of M. pneumoniae strain M129, implying recombination as a mechanism for generation of the P1 gene variation. Additionally, in the P1 gene sequences of four of the five strains studied, single-nucleotide polymorphisms different from the previously reported P1 type 1 and 2 characteristic sequences were identified. The polymorphic sites are candidate targets for genotyping of M. pneumoniae by direct sequencing of amplicons from clinical specimens.

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10

Choi, Ihn-Geun, Sung-Il Woo, Ho Jin Kim, Dai-Jin Kim, Byung Lae Park, Hyun Sub Cheong, Charisse Flerida A. Pasaje, et al. "Lack of Association betweenPRNPM129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population." Disease Markers 28, no. 5 (2010): 315–21. http://dx.doi.org/10.1155/2010/196538.

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The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association ofPRNP*129Valwith multiple sclerosis (MS,n= 681), mild cognitive impairment (MCI,n= 801), alcoholism (n= 761) and schizophrenia (n= 715) in a Korean population, and compared the data with previous genetic association studies of the variant. The minor allele frequency ofPRNP*129Val(MAF = 0.025) was significantly lower in Korean population (n= 2,479) compared to Caucasian populations (P< 0.0001), suggestive of a weak influence of the variant in the previous population. Statistical analysis revealed no significant association betweenPRNP*129Valand MS (P = 0.76), MCI (P = 0.46), alcoholism (P = 0.84) and schizophrenia (P = 0.69). These findings were discussed in the context of prior inconsistent reports on the role ofPRNP*129Valpolymorphism in several diseases. Results from this study may provide further evidence thatPRNP M129Vis not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.

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11

Wang, X., W. Sun, X. Zhu, X. Wu, L. Li, S. Zhu, T. Du, et al. "M129V polymorphism in the prion protein gene is not associated with mesial temporal lobe epilepsy in a Han Chinese population." European Journal of Neurology 15, no. 8 (August 2008): 827–30. http://dx.doi.org/10.1111/j.1468-1331.2008.02191.x.

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12

Erginel-Unaltuna, Nihan, Katell Peoc'h, Evrim Komurcu, Tufan Tevfik Acuner, Halim Issever, and Jean-Louis Laplanche. "Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease." European Journal of Human Genetics 9, no. 12 (December 2001): 965–68. http://dx.doi.org/10.1038/sj.ejhg.5200754.

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13

Jeong, B.-H., Y.-C. Jeon, Y.-J. Lee, H.-J. Cho, S.-J. Park, D.-I. Chung, J. Kim, et al. "Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment." Neuropathology and Applied Neurobiology 36, no. 6 (May 20, 2010): 558–63. http://dx.doi.org/10.1111/j.1365-2990.2010.01094.x.

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14

Necpál, Ján, Martin Stelzer, Silvia Koščová, and Michal Patarák. "A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset." Case Reports in Neurological Medicine 2016 (2016): 1–3. http://dx.doi.org/10.1155/2016/4167391.

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Creutzfeldt-Jakob disease (CJD) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other movement disorders. The clinical course is typically insidious and rapid, leading to an early death. In general, the most common form is sporadic CJD; however, Slovakia is typical for a high percentage of genetic cases. We present an unusual case report of a 65-year-old man with a sudden, stroke-like onset of motor aphasia with right-sided levodopa unresponsive parkinsonism, alien hand, and other characteristic features of corticobasal syndrome (CBS), with rapid deterioration and death on the 32nd day of the disease. Various neurodegenerative disorders are manifested with CBS as a clinical phenotype, including corticobasal degeneration (CBD), progressive supranuclear palsy, Alzheimer’s disease, and CJD. In our patient, mutation E200K and M129M polymorphism of the PRNP gene and typical immunohistochemical findings pointed to a diagnosis of CJD. The patient’s mother died of CJD many years ago. Several CBS-CJD cases were described, but the atypical stroke-like onset of CBS-CJD, an extremely rare presentation of CJD, makes our case unique worldwide.

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15

COUSIN-ALLERY, A., A. CHARRON, B. DE BARBEYRAC, G. FREMY, J. SKOV JENSEN, H. RENAUDIN, and C. BEBEAR. "Molecular typing of Mycoplasma pneumoniae strains by PCR-based methods and pulsed-field gel electrophoresis. Application to French and Danish isolates." Epidemiology and Infection 124, no. 1 (February 2000): 103–11. http://dx.doi.org/10.1017/s0950268899003313.

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Restriction fragment length polymorphism (RFLP) analysis of the amplified P1 gene was used to type 153 strains of Mycoplasma pneumoniae isolated in France between 1977 and 1994, and in Denmark between 1962 and 1994, and an additional group of 28 strains isolated from Belgium and Germany between 1990 and 1993. Random amplified polymorphic DNA (RAPD) analysis was tested on French, Belgian and German strains. Both methods separated the strains into two groups corresponding to the two reference strains M129 (group I) and FH (group II), and gave concordant results. When 75 selected strains of different geographical origin were analysed by pulsed-field gel electrophoresis (PFGE), strains of group II fell into two closely related subgroups, subgroup IIa corresponding to the reference strain FH, and subgroup IIb. Most of the strains isolated in Denmark in the period 1962–86 belonged to group I. Almost all strains isolated in France and Denmark between 1987 and 1988 were from group II, the two subgroups being present. In 1991–3, almost all strains from France as well as Denmark, Germany and Belgium belonged to group I.

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16

Vollmert, C., O. Windl, W. Xiang, A. Rosenberger, I. Zerr, H.-E. Wichmann, H. Bickeboller, T. Illig, and H. A. Kretzschmar. "Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study." Journal of Medical Genetics 43, no. 10 (March 29, 2006): e53-e53. http://dx.doi.org/10.1136/jmg.2006.040931.

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17

Schnittger, Susanne, Christiane Eder, Annette Fasan, Thomas Illig, Norman Klopp, H. Erich Wichmann, Wolfgang Kern, Claudia Haferlach, and Torsten Haferlach. "Somatic Mutations and Inborn Variants in Exon 12 of ASXL1 in Different Myeloid Neoplasms." Blood 118, no. 21 (November 18, 2011): 1394. http://dx.doi.org/10.1182/blood.v118.21.1394.1394.

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Abstract Abstract 1394 Introduction: ASXL1 encodes a chromatin-binding protein that is member of the Polycomb group of proteins. Mutations in Exon 12 of ASXL1 have recently been described in a number of different myeloid malignancies. Reported frequencies in the respective entities are highly variable and may rely on in part on the difficulty to differentiate between somatic mutations and inborn polymorphisms. Especially the frequent variant G646WfsX12 of ASXL1 has been described to be most likely a polymorphism or even a technical artefact. Aim: The aim of this study was to evaluate frequencies of ASXL1 mutations in different myeloid entities, compare the mutation types and exclude polymorphisms. Methods: Exon 12 of ASXL1 was analyzed by direct Sanger sequencing. In total 1,053 patients with myeloid malignancies were analyzed. In detail, the cohort consisted of 657 patients (pts) with acute myeloid leukemia (AML), 76 pts with myelodysplastic syndrome (MDS), 21 pts with myeloproliferative neoplasias (MPN) not further classified, 14 pts with MDS/MPN overlaps, 229 pts with chronic myelomonocytic leukemia (CMML), 40 pts with chronic myeloid leukemia in blast crisis (CML-BC), and 16 pts with primary myelofibrosis (PMF). Female/male ratio was 440/613 and age ranged from 13.3–100.4 years (median, 68.0 years). In addition, we analyzed a healthy control cohort from the KORA (Cooperative Health Research in the Region of Augsburg) survey S4, which consists of 491 cases which were matched to the leukemia samples with respect to sex and age. Results: In total 273 ASXL1 variants were detected. All variants were detected with a mutation/wildtype load of 40–50%. 23 of these have been described to be rare polymorphisms (G652S: n=1, L815P: n=2, N986S: n=2, E1102D: n=15, A1312V: n=1, M1249V: n=1, S1253S: n=1) and were excluded from further calculations. Of the remaining 250 variants most were frameshifts (n=187, 74.8%) and stop mutations (n=46, 18.4%). Thus, 93.2% had disruptive character. Only 17 (6.8%) were missense mutations. The most frequent mutation was G646WfsX12 detected in 106 cases (42.4%). This variant was detected with similar frequency in all entities (AML: 49/657, 7.5%; MDS: 9/76, 11.8%; MPN: 2/21, 9.5%; MDS/MPN: 3/14, 23.4%; CMML: 37/229, 16.2%, CML-BC: 4/40, 10%, PMF: 2/16, 12.5%). G646WfsX12 has repeatedly been discussed not to be a somatic mutation but more likely a polymorphism or even a sequencing artefact due to an 8 base-pair guanine homopolymere at that site. Unfortunately, in none of these cases a healthy control tissue or a complete remission sample was available. However, we excluded a polymorphic character of G646WfsX12 in three ways: 1) a technical problem was excluded as all G646WfsX12 cases remained positive and all G646wt samples remained negative upon repeated testing. 2) In the KORA cohort of 491 samples one (0.2%) G646WfsX12 positive sample with mutation load of only 10% was identified. This incidence is significantly below that observed in myeloid malignancies and because of the low mutation load this case was interpreted as having a small premalignant clone or an early yet undetected clonal disease. 3) G646WfsX12 occurs due to three different mechanisms at the nucleic acid level: c.1934dupG (n=101), c.1927_1928insA (n=2), or c.1935dupT (n=3). Thus, we strongly believe that G646WfsX12 has to be regarded as a somatic mutation. In contrast, the so far undescribed G652S, T688M, and P722R variants were detected with a 50% load in 2, 1, and 1 KORA samples, respectively, and may be addressed as new rare germline variants. Other missense mutations observed in the patient cohort were not detected in the control cohort and were regarded as somatic mutations. Consequently, the total frequency of ASXL1 mutations in the different entities was determined as follows: AML: 100/657, 15.2%; MDS: 24/76, 31.6%; MPN: 7/21, 33.3%; MDS/MPN: 6/14, 46.8%; CMML: 94/229, 41.0%, CML-BC: 13/40, 32.5%, PMF: 6/16, 37.5%). Summary:ASXL1 mutations are frequent in all myeloid malignancies with the highest incidences in CMML, MDS/MPN overlap and CML-BC. There are no disease specific ASXL1 mutation patterns. Disrupting mutations (frameshift and nonsense) are the most common mutation types (93.2%). G646WfsX12 is the most frequent alteration and was verified here as a true somatic mutation. Missense mutations are rare and should be regarded carefully as possibly innocent bystanders or very rare polymorphisms. Disclosures: Schnittger: MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Eder:MLL Munich Leukemia Laboratory: Employment. Fasan:MLL Munich Leukemia Laboratory: Employment. Kern:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership.

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18

Proft, T., H. Hilbert, G. Layh-Schmitt, and R. Herrmann. "The proline-rich P65 protein of Mycoplasma pneumoniae is a component of the Triton X-100-insoluble fraction and exhibits size polymorphism in the strains M129 and FH." Journal of bacteriology 177, no. 12 (1995): 3370–78. http://dx.doi.org/10.1128/jb.177.12.3370-3378.1995.

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19

Giannakopoulos, Marios, Anna Antonacopoulou, Anastasia Kottorou, Haralabos Kalofonos, and Sotirios Gartaganis. "Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome." Clinical Ophthalmology, April 2016, 731. http://dx.doi.org/10.2147/opth.s92174.

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20

Antonacopoulou, Anna G., Maria Palli, Stella Marousi, Fotinos-Ioannis Dimitrakopoulos, Urania Kyriakopoulou, Athanasios C. Tsamandas, Chrisoula D. Scopa, Athanasios G. Papavassiliou, and Haralabos P. Kalofonos. "Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer." Molecular Carcinogenesis, 2010, n/a. http://dx.doi.org/10.1002/mc.20642.

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21

Kim, Yong-Chan, and Byung-Hoon Jeong. "The First Meta-Analysis of the M129V Single Nucleotide Polymorphism (SNP) of the Prion Protein Gene ( PRNP ) with sporadic Creutzfeldt-Jako disease PRNP) with Sporadic Creutzfeldt-Jakob Disease." SSRN Electronic Journal, 2021. http://dx.doi.org/10.2139/ssrn.3825525.

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