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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 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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Activity of the pituitary-gonadal axis is increased prior to the onset of spawning migration of chum salmon.

https://arctichealth.org/en/permalink/ahliterature90768
Source
J Exp Biol. 2009 Jan;212(Pt 1):56-70
Publication Type
Article
Date
Jan-2009
Author
Onuma Takeshi A
Sato Shunpei
Katsumata Hiroshi
Makino Keita
Hu Weiwei
Jodo Aya
Davis Nancy D
Dickey Jon T
Ban Masatoshi
Ando Hironori
Fukuwaka Masa-Aki
Azumaya Tomonori
Swanson Penny
Urano Akihisa
Author Affiliation
Graduate School of Bioresource and Bioenvironmental Sciences, Kyushu University, Fukuoka 812-8581, Japan. takeshikiai@msn.com
Source
J Exp Biol. 2009 Jan;212(Pt 1):56-70
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Age Factors
Analysis of Variance
Animal Migration - physiology
Animals
DNA Primers - genetics
DNA, Mitochondrial - genetics
Follicle Stimulating Hormone, beta Subunit - metabolism
Gonadal Steroid Hormones - blood
Gonads - metabolism - physiology
Haplotypes - genetics
Microarray Analysis
Oncorhynchus keta - physiology
Pacific Ocean
Pituitary Gland - metabolism - physiology
RNA, Messenger - metabolism
Radioimmunoassay
Reverse Transcriptase Polymerase Chain Reaction
Seasons
Sexual Behavior, Animal - physiology
Abstract
The activity of the pituitary-gonadal axis (PG axis) in pre-migratory and homing chum salmon was examined because endocrine mechanisms underlying the onset of spawning migration remain unknown. Pre-migratory fish were caught in the central Bering Sea in June, July and September 2001, 2002 and 2003, and in the Gulf of Alaska in February 2006. They were classified into immature and maturing adults on the basis of gonadal development. The maturing adults commenced spawning migration to coastal areas by the end of summer, because almost all fish in the Bering Sea were immature in September. In the pituitaries of maturing adults, the copy numbers of FSHbeta mRNA and the FSH content were 2.5- to 100-fold those of the immature fish. Similarly, the amounts of LHbeta mRNA and LH content in the maturing adults were 100- to 1000-fold those of immature fish. The plasma levels of testosterone, 11-ketotestosterone and estradiol were higher than 10 nmol l(-1) in maturing adults, but lower than 1.0 nmol l(-1) in immature fish. The increase in the activity of the PG-axis components had already initiated in the maturing adults while they were still in the Gulf of Alaska in winter. In the homing adults, the pituitary contents and the plasma levels of gonadotropins and plasma sex steroid hormones peaked during upstream migration from the coast to the natal hatchery. The present results thus indicate that the seasonal increase in the activity of the PG axis is an important endocrine event that is inseparable from initiation of spawning migration of chum salmon.
PubMed ID
19088211 View in PubMed
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Adler hantavirus, a new genetic variant of Tula virus identified in Major's pine voles (Microtus majori) sampled in southern European Russia.

https://arctichealth.org/en/permalink/ahliterature265932
Source
Infect Genet Evol. 2015 Jan;29:156-63
Publication Type
Article
Date
Jan-2015
Author
Evgeniy A Tkachenko
Peter T Witkowski
Lukas Radosa
Tamara K Dzagurova
Nataliya M Okulova
Yulia V Yunicheva
Ludmila Vasilenko
Vyacheslav G Morozov
Gennadiy A Malkin
Detlev H Krüger
Boris Klempa
Source
Infect Genet Evol. 2015 Jan;29:156-63
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Animals
Arvicolinae - classification - virology
Black Sea
DNA, Mitochondrial - genetics
Evolution, Molecular
Genetic Variation
Hantavirus - classification - genetics - isolation & purification
Humans
Phylogeny
Phylogeography
RNA, Viral - analysis
Russia
Sequence Analysis, RNA
Abstract
Although at least 30 novel hantaviruses have been recently discovered in novel hosts such as shrews, moles and even bats, hantaviruses (family Bunyaviridae, genus Hantavirus) are primarily known as rodent-borne human pathogens. Here we report on identification of a novel hantavirus variant associated with a rodent host, Major's pine vole (Microtus majori). Altogether 36 hantavirus PCR-positive Major's pine voles were identified in the Krasnodar region of southern European Russia within the years 2008-2011. Initial partial L-segment sequence analysis revealed novel hantavirus sequences. Moreover, we found a single common vole (Microtusarvalis) infected with Tula virus (TULV). Complete S- and M-segment coding sequences were determined from 11 Major's pine voles originating from 8 trapping sites and subjected to phylogenetic analyses. The data obtained show that Major's pine vole is a newly recognized hantavirus reservoir host. The newfound virus, provisionally called Adler hantavirus (ADLV), is closely related to TULV. Based on amino acid differences to TULV (5.6-8.2% for nucleocapsid protein, 9.4-9.5% for glycoprotein precursor) we propose to consider ADLV as a genotype of TULV. Occurrence of ADLV and TULV in the same region suggests that ADLV is not only a geographical variant of TULV but a host-specific genotype. High intra-cluster nucleotide sequence variability (up to 18%) and geographic clustering indicate long-term presence of the virus in this region.
PubMed ID
25433134 View in PubMed
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Adult-onset calorie restriction delays the accumulation of mitochondrial enzyme abnormalities in aging rat kidney tubular epithelial cells.

https://arctichealth.org/en/permalink/ahliterature78534
Source
Am J Physiol Renal Physiol. 2007 Jun;292(6):F1751-60
Publication Type
Article
Date
Jun-2007
Author
McKiernan Susan H
Tuen Victoria C
Baldwin Katherine
Wanagat Jonathan
Djamali Arjang
Aiken Judd M
Author Affiliation
Department of Animal Health and Biomedical Sciences, University of Wisconsin, Madison, WI 53706, USA. mckiernan@svm.vetmed.wisc.edu
Source
Am J Physiol Renal Physiol. 2007 Jun;292(6):F1751-60
Date
Jun-2007
Language
English
Publication Type
Article
Keywords
Aging - physiology
Animals
Body Weight - physiology
Caloric Restriction
DNA, Mitochondrial - genetics
Diet
Electron Transport Complex IV - metabolism
Epithelial Cells - enzymology
Gene Deletion
Kidney Tubules - cytology - enzymology
Lasers
Male
Mitochondria - enzymology
Organ Size - physiology
Rats
Rats, Inbred F344
Reverse Transcriptase Polymerase Chain Reaction
Succinate Dehydrogenase - metabolism
Abstract
Adult-onset calorie restriction (A-CR) is an experimental model of life extension and healthy aging less explored, compared with calorie restriction begun at early ages, but one more realistic for human application. We examined the effect of A-CR on the aging rat kidney with respect to common structural age-dependent changes and the accumulation of mitochondrial enzyme abnormalities in tubular epithelial cells. A 40% calorie restriction was initiated in middle-aged rats, before the onset of significant age-related changes in the Fischer x Brown Norway rat kidney. This dietary intervention effectively reduced glomerulosclerosis and tubular atrophy within 6 mo and changed the rate of interstitial fibrosis formation within 1 yr and vascular wall thickening and the expression cytochrome c oxidase (COX)-deficient tubular epithelial cells in 18 mo compared with age-matched ad libitum-fed rats. Our histological approach (histochemical staining for mitochondrial enzyme activity and laser capture microdissection) coupled with mitochondrial DNA (mtDNA) PCR analyses demonstrated that COX-deficient renal tubular epithelial cells accumulated mtDNA deletion mutations and that these cells contained unique, clonally expanded mtDNA deletion mutations. Renal tubular epithelial cells with mitochondrial abnormalities presented cellular characteristics indicative of physiological dysfunction.
PubMed ID
17344189 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
Less detail

Ages of mutations on a coalescent tree.

https://arctichealth.org/en/permalink/ahliterature203995
Source
Math Biosci. 1998 Oct;153(1):41-61
Publication Type
Article
Date
Oct-1998
Author
R. Thomson
Author Affiliation
Mathematics Department, Monash University, Clayton, Vic., Australia. rjt@mws4.biol.berkeley.edu
Source
Math Biosci. 1998 Oct;153(1):41-61
Date
Oct-1998
Language
English
Publication Type
Article
Keywords
Base Sequence - genetics
British Columbia
DNA, Mitochondrial - genetics
Female
Genetics, Population
Humans
Indians, North American - genetics
Male
Markov Chains
Models, Biological
Mutation - genetics
Numerical Analysis, Computer-Assisted
Phylogeny
Poisson Distribution
Population Dynamics
Washington
Abstract
Using the coalescent process, DNA sequences of a sample of individuals can be used to study the phylogenetic history of the individuals. Under the infinitely-many-sites mutation model, the DNA sequence data can be summarized by the number of segregating sites (which is numerically equivalent to the number of mutations on the tree). A number of methods exist, including a recursive method presented in this paper, that obtain an estimate of the age of the most recent common ancestor (MRCA), given the number of mutations. This paper introduces a method for finding the ages of mutations, given the total number of mutations on the tree. While the result is not useful in estimating the age of a specific segregating site, it is useful in examining the underlying assumption of a relatively constant population over time. This utilization of the result is illustrated using DNA sequence data obtained from a sample of Amerindians of the Nuu-Chah-Nulth tribe.
PubMed ID
9810160 View in PubMed
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American Indian prehistory as written in the mitochondrial DNA: a review.

https://arctichealth.org/en/permalink/ahliterature223740
Source
Hum Biol. 1992 Jun;64(3):403-16
Publication Type
Article
Date
Jun-1992
Author
D C Wallace
A. Torroni
Author Affiliation
Center for Genetics and Molecular Medicine, Emory University, Atlanta, GA 30322.
Source
Hum Biol. 1992 Jun;64(3):403-16
Date
Jun-1992
Language
English
Publication Type
Article
Keywords
Asia - ethnology
DNA, Mitochondrial - genetics
Emigration and Immigration - history
Genetic Markers - genetics
Genetic Variation
Haplotypes - genetics
History, Ancient
Humans
Indians, Central American - genetics - history
Indians, North American - genetics - history
Indians, South American - genetics - history
Polymorphism, Restriction Fragment Length
Abstract
Native Americans have been divided into three linguistic groups: the reasonably well-defined Eskaleut and Nadene of northern North America and the highly heterogeneous Amerind of North, Central, and South America. The heterogeneity of the Amerinds has been proposed to be the result of either multiple independent migrations or a single ancient migration with extensive in situ radiation. To investigate the origin and interrelationship of the American Indians, we examined the mitochondrial DNA (mtDNA) variation in 87 Amerinds (Pima, Maya, and Ticuna of North, Central, and South America, respectively), 80 Nadene (Dogrib and Tlingit of northwest North America and Navajo of the southwest North America), and 153 Asians from 7 diverse populations. American Indian mtDNAs were found to be directly descended from five founding Asian mtDNAs and to cluster into four lineages, each characterized by a different rare Asian mtDNA marker. Lineage A is defined by a HaeIII site gain at np 663, lineage B by a 9-bp deletion between the COII and tRNA(Lys) genes, lineage C by a HincII site loss at np 13259, and lineage D by an AluI site loss at np 5176. The North, Central, and South America Amerinds were found to harbor all four lineages, demonstrating that the Amerinds originated from a common ancestral genetic stock. The genetic variation of three of the four Amerind lineages (A, C, and D) was similar with a mean value of 0.084%, whereas the sequence variation in the fourth lineage (B) was much lower, raising the possibility of an independent arrival. By contrast, the Nadene mtDNAs were predominantly from lineage A, with 27% of them having a Nadene-specific RsaI site loss at np 16329. The accumulated Nadene variation was only 0.021%. These results demonstrate that the Amerind mtDNAs arose from one or maybe two Asian migrations that were distinct from the migration of the Nadene and that the Amerind populations are about four times older than the Nadene.
Notes
Comment In: Hum Biol. 1992 Jun;64(3):271-91607180
PubMed ID
1351474 View in PubMed
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321 records – page 1 of 33.