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A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA.

https://arctichealth.org/en/permalink/ahliterature82145
Source
Neurology. 2006 May 23;66(10):1470-5
Publication Type
Article
Date
May-23-2006
Author
Majamaa-Voltti K A M
Winqvist S.
Remes A M
Tolonen U.
Pyhtinen J.
Uimonen S.
Kärppä M.
Sorri M.
Peuhkurinen K.
Majamaa K.
Author Affiliation
Department of Internal Medicine, University of Oulu, Oulu, Finland. kirsi.majamaa-voltti@oulu.fi
Source
Neurology. 2006 May 23;66(10):1470-5
Date
May-23-2006
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Blood Glucose - analysis
Cognition Disorders - genetics
DNA, Mitochondrial - genetics
Diabetes Mellitus - blood - genetics
Disease Progression
Electrocardiography, Ambulatory
Electroencephalography
Female
Finland - epidemiology
Follow-Up Studies
Hearing Loss, Sensorineural - genetics
Humans
Hypertrophy, Left Ventricular - genetics - ultrasonography
Lactates - blood
MELAS Syndrome - genetics - mortality
Male
Middle Aged
Mitochondria, Muscle - metabolism
Mosaicism
Neuropsychological Tests
Point Mutation
Pyruvates - blood
Abstract
OBJECTIVE: To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years. METHODS: Thirty-three adult patients with the 3243A>G mutation entered a 3-year follow-up study. They were clinically evaluated annually, audiometry was performed, and samples were drawn for the analysis of blood chemistry and mutation heteroplasmy in leukocytes. Holter recording was performed three times during the follow-up and echocardiography, neuropsychological assessment, and quantitative EEG and brain imaging conducted at entry and after 3 years. RESULTS: The incidence of new neurologic events was low during the 3-year follow-up. Sensorineural hearing impairment (SNHI) progressed, left ventricular wall thickness increased, mean alpha frequency in the occipital and parietal regions decreased, and the severity of disease index (modified Rankin score) progressed significantly. The rate of SNHI progression correlated with mutation heteroplasmy in muscle. The increase in left ventricular wall thickness was seen almost exclusively in diabetic patients. Seven patients died during the follow-up, and they were generally more severely affected than those who survived. CONCLUSIONS: Significant changes in the severity of disease, sensorineural hearing impairment, left ventricular hypertrophy, and quantitative EEG were seen in adult patients with 3243A>G during the 3-year follow-up.
Notes
Comment In: Neurology. 2007 Jan 9;68(2):163-417210904
PubMed ID
16717204 View in PubMed
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The 5alpha-reductase type II A49T and V89L high-activity allelic variants are more common in men with prostate cancer compared with the general population.

https://arctichealth.org/en/permalink/ahliterature173682
Source
Eur Urol. 2005 Oct;48(4):679-85
Publication Type
Article
Date
Oct-2005
Author
Yvonne L Giwercman
Per-Anders Abrahamsson
Aleksander Giwercman
Virgil Gadaleanu
Göran Ahlgren
Author Affiliation
Department of Urology, Malmö University Hospital, Lund University, Wallenberg Laboratory, entrance 46, SE - 205 02 Malmö, Sweden. yvonne.giwercman@kir.mas.lu.se
Source
Eur Urol. 2005 Oct;48(4):679-85
Date
Oct-2005
Language
English
Publication Type
Article
Keywords
3-Oxo-5-alpha-Steroid 4-Dehydrogenase - blood - genetics
Aged
Alanine
Alleles
Arginine
Case-Control Studies
Dihydrotestosterone - blood
Disease Progression
Follow-Up Studies
Genetic Predisposition to Disease
Genotype
Glutamine
Humans
Leucine
Luteinizing Hormone - blood
Male
Middle Aged
Point Mutation
Polymorphism, Genetic
Prostatic Hyperplasia - blood - epidemiology - genetics
Prostatic Neoplasms - blood - epidemiology - genetics
Receptors, Androgen - blood - genetics
Risk factors
Sex Hormone-Binding Globulin - metabolism
Sweden - epidemiology
Terminal Repeat Sequences
Testosterone - blood
Threonine
Tumor Markers, Biological - blood
Valine
Abstract
To compare men with prostate disease with those from the general population regarding polymorphisms in the androgen receptor gene and in the 5alpha-reductase II (SRD5A2) gene.
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients compared to general population, p=0.026 and p=0.05, respectively. CaP progression was, however, independent of SRD5A2 variants. In contrary, men with GGN
PubMed ID
16039774 View in PubMed
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The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.

https://arctichealth.org/en/permalink/ahliterature31346
Source
Clin Genet. 2002 Oct;62(4):303-5
Publication Type
Article
Date
Oct-2002
Author
E. ØStergaard
B. Montserrat-Sentis
K. Grønskov
K. Brøndum-Nielsen
Author Affiliation
Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark. els@kennedy.dk
Source
Clin Genet. 2002 Oct;62(4):303-5
Date
Oct-2002
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
DNA, Mitochondrial - genetics
Denmark - epidemiology
Female
Genetic Predisposition to Disease - epidemiology
Genetic Screening
Hearing Loss, Sensorineural - epidemiology - genetics
Humans
Male
Point Mutation
Abstract
The A1555G mutation of the mtDNA is associated with both aminoglycoside-induced and non-syndromic hearing loss. The A1555G is relatively frequent in the Spanish and some Asian populations, but has only been reported rarely in other populations, possibly because of ascertainment bias. We studied 85 Danish patients with varying degrees of hearing impairment and found two patients with the A1555G mutation (2.4%). Neither had received aminoglycosides. Our study indicates that the mutation might not be uncommon in Danish patients with hearing impairment.
PubMed ID
12372057 View in PubMed
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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

https://arctichealth.org/en/permalink/ahliterature50771
Source
Eur J Hum Genet. 2002 Mar;10(3):197-203
Publication Type
Article
Date
Mar-2002
Author
Alessandra Maugeri
Kris Flothmann
Nadine Hemmrich
Sofie Ingvast
Paula Jorge
Eva Paloma
Reshma Patel
Jean-Michel Rozet
Jaana Tammur
Francesco Testa
Susana Balcells
Alan C Bird
Han G Brunner
Carel B Hoyng
Andres Metspalu
Francesca Simonelli
Rando Allikmets
Shomi S Bhattacharya
Michele D'Urso
Roser Gonzàlez-Duarte
Josseline Kaplan
Gerard J te Meerman
Rosário Santos
Marianne Schwartz
Guy Van Camp
Claes Wadelius
Bernhard H F Weber
Frans P M Cremers
Author Affiliation
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands. a.maugeri@antrg.azn.nl
Source
Eur J Hum Genet. 2002 Mar;10(3):197-203
Date
Mar-2002
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Alleles
Base Sequence
Europe
Gene Frequency
Heterozygote
Humans
Molecular Sequence Data
Mutation
Point Mutation
Research Support, Non-U.S. Gov't
United States
Abstract
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy. A number of mutations have been repeatedly reported for this gene, notably the 2588G>C mutation which is frequent in both patients and controls. Here we ascertained the frequency of the 2588G>C mutation in a total of 2343 unrelated random control individuals from 11 European countries and 241 control individuals from the US, as well as in 614 patients with STGD both from Europe and the US. We found an overall carrier frequency of 1 out of 54 in Europe, compared with 1 out of 121 in the US, confirming that the 2588G>C ABCA4 mutation is one of the most frequent autosomal recessive mutations in the European population. Carrier frequencies show an increasing gradient in Europe from South-West to North-East. The lowest carrier frequency, 0 out of 199 (0%), was found in Portugal; the highest, 11 out of 197 (5.5%), was found in Sweden. Haplotype analysis in 16 families segregating the 2588G>C mutation showed four intragenic polymorphisms invariably present in all 16 disease chromosomes and sharing of the same allele for several markers flanking the ABCA4 locus in most of the disease chromosomes. These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago.
PubMed ID
11973624 View in PubMed
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Absence of dihydropteroate synthase gene mutations in Pneumocystis jirovecii isolated from Swedish patients.

https://arctichealth.org/en/permalink/ahliterature133180
Source
Med Mycol. 2012 Apr;50(3):320-3
Publication Type
Article
Date
Apr-2012
Author
Jessica Beser
Leigh Dini
Silvia Botero-Kleiven
Margareta Krabbe
Johan Lindh
Per Hagblom
Author Affiliation
Swedish Institute for Communicable Disease Control, Solna, Sweden. Jessica.Beser@smi.se
Source
Med Mycol. 2012 Apr;50(3):320-3
Date
Apr-2012
Language
English
Publication Type
Article
Keywords
DNA, Fungal - chemistry - genetics
Dihydropteroate Synthase - genetics
Humans
Immunocompromised Host
Pneumocystis jirovecii - enzymology - genetics - isolation & purification
Pneumonia, Pneumocystis - microbiology
Point Mutation
Polymerase Chain Reaction
Retrospective Studies
Sequence Analysis, DNA
Sweden
Abstract
Pneumocystis jirovecii remains an important cause of pneumonia in the immunocompromised host, with the largest group of patients at risk for P. jirovecii pneumonia (PCP) in Sweden being those with haematological diseases. Widespread prophylaxis and treatment for P. jirovecii with sulfa-containing drugs have effectively decreased the incidence of PCP, but concerns have been raised about the possible emergence of P. jirovecii isolates that are resistant to these drugs. Two point mutations in the gene coding for the dihydropteroate synthase enzyme (DHPS) in P. jirovecii have been shown to be associated with prior exposure to sulfa drugs. We retrospectively studied the occurrence of P. jirovecii DHPS mutations in isolates recovered from 103 Swedish patients. The DHPS gene, including the polymorphic positions 165 and 171, were amplified and sequenced by pyrosequencing technology. All the clinical specimens showed a wild-type pattern indicating that the occurrence of P. jirovecii DHPS mutations in Sweden is very low or absent.
PubMed ID
21732748 View in PubMed
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Absence of the A1252G mutation in alpha 1-antichymotrypsin in a North American population suffering from dementia.

https://arctichealth.org/en/permalink/ahliterature209447
Source
J Cereb Blood Flow Metab. 1997 Feb;17(2):233-5
Publication Type
Article
Date
Feb-1997
Author
B M Gilfix
L. Briones
Author Affiliation
Division of Medical Genetics, Royal Victoria Hospital, Montreal, Quebec, Canada.
Source
J Cereb Blood Flow Metab. 1997 Feb;17(2):233-5
Date
Feb-1997
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Alcoholism - complications
Alleles
Alzheimer Disease - epidemiology - genetics
Case-Control Studies
Dementia - chemically induced - classification - epidemiology - genetics
Dementia, Vascular - epidemiology - genetics
Disease Susceptibility
Female
Gene Frequency
Genotype
Humans
Japan - epidemiology
Male
Point Mutation
Polymorphism, Genetic
Quebec - epidemiology
alpha 1-Antichymotrypsin - deficiency - genetics
Abstract
Associations have been reported between polymorphisms in the gene for alpha 1-antichymotrypsin (ACT) and both Alzheimer's disease (AD) and cerebrovascular disease. An A-to-G substitution at nucleotide position 1,252 of ACT that produces a methionine to valine substitution at codon 389 has been found previously in four of 32 individuals with cerebrovascular disease from a Japanese population. We genotyped 194 individuals [59 controls, 35 with non-AD-type dementia (primarily vascular) and 100 with Alzheimer's-type dementia] for this polymorphism and found none that carry this polymorphism. Therefore, the allelic association of the A1252G mutation of ACT with cerebrovascular disease may be confined to the Japanese population and is not generalizable to other populations.
PubMed ID
9040504 View in PubMed
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Activated protein C resistance caused by a common factor V mutation has a single origin.

https://arctichealth.org/en/permalink/ahliterature209414
Source
Thromb Res. 1997 Feb 1;85(3):237-43
Publication Type
Article
Date
Feb-1-1997
Author
B. Zöller
A. Hillarp
B. Dahlbäck
Author Affiliation
Department of Clinical Chemistry, Lund University, University Hospital, Malmö, Sweden.
Source
Thromb Res. 1997 Feb 1;85(3):237-43
Date
Feb-1-1997
Language
English
Publication Type
Article
Keywords
Adult
Aged
Base Sequence
Exons
Factor V - genetics
Female
Genotype
Humans
Male
Middle Aged
Molecular Sequence Data
Point Mutation
Protein C - genetics - metabolism
Restriction Mapping
Sweden
Abstract
A point mutation (FV:R506Q) in the human coagulation factor V gene is associated with resistance to activated protein C and life-long increased risk of venous thrombosis. The mutation is common in populations of Caucasian origin but virtually absent among other populations. In this study of 140 healthy Swedish volunteers and 110 homozygotes for the FV:R506Q mutation, we determined the allele frequencies of the FV:R506Q mutation and four other dimorphisms, C/T at nucleotide positions 2298 and 2325, and A/G at nucleotide positions 2379 and 2391. Manifest linkage disequilibrium was found between the FV:R506Q mutation and the four different dimorphisms. The finding of a single FV:R506Q haplotype in all homozygotes constitutes strong evidence of a common ancestor of Swedish individuals with the FV:R506Q mutation.
PubMed ID
9058498 View in PubMed
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Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.

https://arctichealth.org/en/permalink/ahliterature48543
Source
Neurology. 1993 May;43(5):1015-20
Publication Type
Article
Date
May-1993
Author
A M Remes
K. Majamaa
R. Herva
I E Hassinen
Author Affiliation
Department of Medical Biochemistry, University of Oulu, Finland.
Source
Neurology. 1993 May;43(5):1015-20
Date
May-1993
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
DNA, Mitochondrial - genetics - isolation & purification
Diabetes Mellitus, Type 2 - genetics
Female
Hearing Loss, Sensorineural - genetics
Humans
Kidney - metabolism
MELAS Syndrome - genetics
Male
Mitochondria - metabolism
Mitochondria, Heart - metabolism
Mitochondria, Muscle - metabolism
Pedigree
Point Mutation
Polymerase Chain Reaction
RNA, Transfer, Leu - genetics
Research Support, Non-U.S. Gov't
Abstract
We describe a family with three cases of "clinically incomplete mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome" in which heteroplasmic tRNA(Leu(UUR)) mutation at nucleotide 3243 of the mitochondrial DNA was present in three generations. The amount of mutant genome varied among tissues: it was 60% in the kidney, 72% in the cardiac muscle, and 91% in the liver of the female proband's affected brother and 63% in the kidney, 71% in the cardiac muscle, and 71% in the liver of the female proband's perinatally deceased son. The tRNA(Leu(UUR)) mutation was also carried by the siblings of the proband's affected mother. None of them had any clinical signs of MELAS syndrome. This syndrome has the new feature of being associated with adult-onset diabetes mellitus, neurosensory hearing loss, and short stature.
PubMed ID
8492919 View in PubMed
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355 records – page 1 of 36.