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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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Oral glucose tolerance and its relationship to overweight and other cardiovascular risk factors in men aged 33-42. A study in the community of Habo, Sweden.

https://arctichealth.org/en/permalink/ahliterature48421
Source
Scand J Prim Health Care. 1994 Dec;12(4):261-8
Publication Type
Article
Date
Dec-1994
Author
L G Persson
K. Lindström
C. Bengtsson
Author Affiliation
Primary Health Care Centre of Habo, Sweden.
Source
Scand J Prim Health Care. 1994 Dec;12(4):261-8
Date
Dec-1994
Language
English
Publication Type
Article
Keywords
Adult
Blood glucose
Body mass index
Cardiovascular Diseases - etiology
Diabetes Mellitus - blood - genetics
Epidemiologic Methods
Exertion
Glucose Tolerance Test
Humans
Lipids - blood
Male
Obesity - blood
Population Surveillance
Research Support, Non-U.S. Gov't
Risk factors
Sweden
Abstract
OBJECTIVE--To study the prevalence of family history of diabetes, overweight, and glucose intolerance in a defined general population, and the associations between these variables and others involved in the so-called metabolic syndrome (blood pressure, obesity, serum lipids). DESIGN--An oral glucose tolerance test (OGTT) was done on all participants in a population study who reported a family history of diabetes or had a body mass index (BMI) > or = 27. SETTING AND PARTICIPANTS--A population study of men aged 33-42 was carried out at Habo in southwestern Sweden (participation rate 86.1%). An OGTT was done on 170 men who fulfilled the criteria stated above. RESULTS--Overweight was a risk factor for impaired glucose tolerance and was more strongly associated with this state than was a family history of diabetes. Glucose intolerance was also associated with increased blood glucose concentration during the OGTT and with other metabolic disturbances such as increased serum lipids, increased blood pressure, and physical inactivity. CONCLUSIONS--The combination of overweight and impaired glucose tolerance is already common at a rather young age in men and is often combined with impairment of arterial blood pressure and serum lipids. The results indicate that it is urgent to start preventive measures early in life.
PubMed ID
7863144 View in PubMed
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Suggestive linkages between markers on human 1p32-p22 and body fat and insulin levels in the Quebec Family Study.

https://arctichealth.org/en/permalink/ahliterature209160
Source
Obes Res. 1997 Mar;5(2):115-21
Publication Type
Article
Date
Mar-1997
Author
Y C Chagnon
L. Pérusse
M. Lamothe
M. Chagnon
A. Nadeau
F T Dionne
J. Gagnon
W K Chung
R L Leibel
C. Bouchard
Author Affiliation
Physical Activity Sciences Laboratory, Laval University, Ste-Foy, Québec, Canada.
Source
Obes Res. 1997 Mar;5(2):115-21
Date
Mar-1997
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Animals
Body Composition - genetics
Body mass index
Chromosome Mapping
Chromosomes, Human, Pair 1
Diabetes Mellitus - blood - genetics
Disease Models, Animal
Family Health
Female
Genetic Linkage
Humans
Insulin - blood - genetics
Insulin Resistance - genetics
Male
Mice
Microsatellite Repeats - genetics
Middle Aged
Obesity - blood - genetics
Phenotype
Quebec - epidemiology
Rats
Sequence Homology, Nucleic Acid
Skinfold thickness
Abstract
A single-gene rodent mutation (diabetes) and a quantitative trait locus (dietary obese 1) mapped to the mid portion of mouse chromosome 4 have been related to obesity and/or insulin levels. Synteny relationships place their putative human homologs on 1p31 and 1p35-p31, respectively. In 137 sibships of adult brothers and sisters from the Québec Family Study, genetic linkages between seven microsatellite markers from 1p32-p22 and various obesity- and diabetes-related quantitative phenotypes were examined using single locus sibpair linkage analysis. Suggestive linkages were observed between markers D1S476 and body mass index (p = 0.05), fat mass (p = 0.02), the sum of six skinfolds (p = 0.02), the insulin area after an oral glucose tolerance test (p = 0.02), and between the neighboring marker D1S200 and body mass index (p = 0.03), and fat mass (p = 0.009). Suggestive linkages were also observed between the more telomeric markers D1S193 and body mass index (p = 0.03), and between the neighboring marker D1S197 and fasting insulin level (p = 0.05). No linkage was observed with the trunk to extremity skinfolds ratio. These linkages suggest that human homologs of the mouse diabetes or dietary obese 1 and/or other genes in this interval on chromosome 1 play a role in the regulation of body mass, body composition, and insulin levels, but not of subcutaneous fat distribution.
PubMed ID
9112246 View in PubMed
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