Abstract:
:Mitochondria provide cells with most of the energy in the form of adenosine triphosphate (ATP). Mitochondria are complex organelles encoded both by nuclear and mtDNA. Only a few mitochondrial components are encoded by mtDNA, most of the mt-proteins are nuclear DNA encoded. Remarkably, the majority of the known mutations leading to a mitochondrial disease have been identified in mtDNA rather than in nuclear DNA. In general, the idea is that these pathogenic mutations in mtDNA affect energy supply leading to a disease state. Remarkably, different mtDNA mutations can associate with distinct disease states, a situation that is difficult to reconcile with the idea that a reduced ATP production is the sole pathogenic factor. This review deals with emerging insight into the mechanism by which the A3243G mutation in the mitochondrial tRNA (Leu, UUR) gene associates with diabetes as major clinical expression. A decrease in glucose-induced insulin secretion by pancreatic beta-cells and a premature aging of these cells seem to be the main process by which this mutation causes diabetes. The underlying mechanisms and variability in clinical presentation are discussed.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Maassen JA,Janssen GM,'t Hart LMdoi
10.1080/07853890510007188subject
Has Abstractpub_date
2005-01-01 00:00:00pages
213-21issue
3eissn
0785-3890issn
1365-2060pii
U7XKN537461G3327journal_volume
37pub_type
杂志文章,评审abstract::Geneticists have been predicting that advances in their discipline will revolutionize the understanding of human disease and behavior. While there has been considerable progress in disorders showing simple, Mendelian patterns of inheritance, expectations have yet to be fulfilled for disorders and traits showing comple...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310010023
更新日期:2003-01-01 00:00:00
abstract::The processes of glycation and oxidation play a significant role in the acceleration of atherosclerosis in diabetes mellitus. Glycation is thought not only to increase the susceptibility of low-density lipoprotein (LDL) to oxidation but also to enhance the propensity of vessel wall structural proteins to bind extravas...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899608999092
更新日期:1996-08-01 00:00:00
abstract::Copper is a trace element necessary for the normal function of several important enzymes but copper homeostasis is still poorly understood. In recent years remarkable progress has been made in this field following the isolation of the gene defective in Menkes disease. Menkes disease and occipital horn syndrome are X-l...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899609092936
更新日期:1996-04-01 00:00:00
abstract::This paper describes the responses of peripheral and central visceral nociceptive systems to acute injury and discusses these observations in relation to the concept of 'pre-emptive analgesia'. Visceral nociceptors are known to respond to injury but are also known to become sensitized to non-noxious stimuli during the...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509031965
更新日期:1995-04-01 00:00:00
abstract::Atrial fibrillation (AF) is associated with an increased risk of mortality and morbidity from stroke and thromboembolism. Endothelial damage or dysfunction may contribute to this increased risk of thromboembolism via the mediation of a prothrombotic or hypercoagulable state. However, the precise pathophysiological mec...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890903160726
更新日期:2009-01-01 00:00:00
abstract:INTRODUCTION:Obesity has reached epidemic proportions worldwide. Maternal obesity has consequences for the offspring's later health. Only few studies have focused upon the long-term consequences of maternal obesity on the offspring's later health. METHODS:A total of 13,345 men and women born in Helsinki during 1934-44...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2014.919728
更新日期:2014-09-01 00:00:00
abstract::The purpose of this study was to test the applicability of exercise echocardiography in the diagnosis of coronary artery disease. The results were compared to findings of coronary angiography. 118 patients, 100 males and 18 females, who were all referred to coronary angiography for suspected ischaemic heart disease, u...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/07853899608999078
更新日期:1996-02-01 00:00:00
abstract:BACKGROUND:Eastern-born male Finns, irrespective of their place of residence, have high mortality from coronary heart disease (CHD), and half of such deaths are sudden. AIM:To study whether eastern birthplace alone or combined with life-style factors predicts risk for prehospital sudden cardiac death (SCD) in the new ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802258753
更新日期:2009-01-01 00:00:00
abstract::Study of the growth and development of cartilage and bone has been difficult because the structure of the tissues makes biological experiments hard to conduct. Recent advances in molecular biology have offered new possibilities for studying these processes. Many cartilage and bone specific cDNAs have been cloned and c...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148050
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVE:Rapid weight loss with very-low-calorie diet (VLCD) is known to improve insulin sensitivity and decrease adipose tissue masses. The aim was to investigate the effects of VLCD on adipose tissue regional glucose uptake (rGU) and perfusion and their association with adipokines. RESEARCH DESIGN AND METHODS:Sixte...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802446754
更新日期:2009-01-01 00:00:00
abstract::The pathogenesis of intrahepatic cholestasis of pregnancy (ICP) can be related to abnormalities in the metabolism and disposition of sex hormones and/or bile acids, determined by a genetic predisposition interacting with environmental factors. The total amount of oestrogens and progesterone circulating in the blood or...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890009011758
更新日期:2000-03-01 00:00:00
abstract::In adults, the high-density lipoprotein cholesterol (HDL-C) level is higher among physically active subjects. However, the association of physical activity and HDL-C is less well studied in adolescents and young adults. Furthermore, it is not known whether the effect of physical activity on HDL-C levels is independent...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899609033128
更新日期:1996-06-01 00:00:00
abstract::Caveolae are vesicular organelles (50-100-nm in diameter) that are particularly abundant in cells of the cardiovascular system, including endothelial cells, smooth muscle cells, macrophages, cardiac myocytes and fibroblasts. In these cell types, caveolae function both in protein trafficking and signal transduction, as...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890410018899
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Finnish type of hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant disorder. Until recently, there has only been little knowledge of fatal complications of the disease and its possible impact on the patients' life span. METHODS:We identified 272 deceased patients based on patient in...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2016.1177197
更新日期:2016-08-01 00:00:00
abstract::Lyme borreliosis is endemic in the Aland Islands. Exposure of the inhabitants to bites of the tick Ixodes ricinus is heavy. The purpose of this study was to describe symptoms and signs of patients with late Lyme borreliosis in this area, and to correlate the findings with the epidemiological setting. The first 100 con...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899309147296
更新日期:1993-08-01 00:00:00
abstract::BACKGROUND. Non-steroidal anti-inflammatory drugs are associated with poor upper gastrointestinal (UGI) tolerability and increased ulcer risk, but patient adherence to gastroprotective co-therapy is frequently inadequate. A fixed-dose combination of enteric-coated naproxen 500 mg and immediate-release esomeprazole mag...
journal_title:Annals of medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3109/07853890.2011.625971
更新日期:2011-12-01 00:00:00
abstract::The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; th...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2017.1392595
更新日期:2018-03-01 00:00:00
abstract::Prolyl 4-hydroxylases (P4Hs) have central roles in the synthesis of collagens and the regulation of oxygen homeostasis. The 4-hydroxyproline residues generated by the endoplasmic reticulum (ER) luminal collagen P4Hs (C-P4Hs) are essential for the stability of the collagen triple helix. Vertebrate C-P4Hs are alpha2beta...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890801986594
更新日期:2008-01-01 00:00:00
abstract::Aim: This meta-analysis study aimed to compare the efficacy and safety of TEVAR versus OCSR for TBAD patients.Methods: We systematically searched PubMed, EmBase, and the Cochrane library to identify studies compared the effectiveness of TEVAR and OCSR in TBAD patients from the inception up to July 2019. The summary re...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.1080/07853890.2019.1679874
更新日期:2019-01-01 00:00:00
abstract::A 33-year old man suddenly dropped dead during a military march. He had complained of non-specific thoracoabdominal symptoms, pain and fatigue for a year before his death. Autopsy showed coronary polyarteritis nodosa of the left main coronary artery. This patient seems to be only the second case with isolated polyarte...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899009147262
更新日期:1990-06-01 00:00:00
abstract::Alcoholism is a complex disorder involving both genetic and environmental factors and interactions between them. Localizing and characterizing the genetic influences on susceptibility to alcohol dependence may provide new insights into pathology and new avenues for treatment and prevention. However, because of the com...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310004903
更新日期:2003-01-01 00:00:00
abstract::The causes of colorectal cancer are complex and in most cases obscure, making primary prevention impossible at present. Secondary prevention by finding and treating early asymptomatic cancers may possibly reduce mortality from this very common cancer. Results from conventional treatment have changed little during rece...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148076
更新日期:1991-10-01 00:00:00
abstract::The effect of different clinical conditions on urinary dolichols was studied in 219 hospital patients and in 24 pregnant women. Significantly increased urinary dolichol levels were found in patients with severe bacterial infections (mean +/- SEM, 37.5 +/- 8.0 micrograms/mmol creatinine, P less than 0.001), in patients...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149176
更新日期:1989-02-01 00:00:00
abstract:BACKGROUND:Abnormal indices of angiogenesis have been reported in chronic heart failure (CHF). We tested the hypothesis that circulating angiogenin (a potent inducer of neovascularization in vivo) is higher in CHF patients compared with controls and associated with indices of CHF severity: brain natriuretic peptide (BN...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802001419
更新日期:2008-01-01 00:00:00
abstract::Troglitazone is a novel once-daily oral antidiabetic agent for the treatment of type 2 diabetes patients. Here, we report the overall dose response characteristics of troglitazone, with respect to effects on metabolic control, using a pharmacodynamic model. Data from week 12 from two previously reported double-blind, ...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.3109/07853899808999405
更新日期:1998-04-01 00:00:00
abstract::MicroRNAs are small non-coding RNAs that bind to multiple target mRNAs to control gene expression post-transcriptionally by inhibiting translation. In mammalian cells, microRNAs play important roles in a diverse array of cellular processes (e.g. cell proliferation and differentiation). However, alterations in their le...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2014.958196
更新日期:2014-12-01 00:00:00
abstract::Several lines of evidence suggest that abnormal brain serotonin metabolism may occur in early onset, type 2 alcoholism in men. Low cerebrospinal fluid 5-hydroxy-indoleacetic acid concentration has been found to be associated with a history of paternal alcoholism, and abnormal oral glucose tolerance tests (tendency to ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899009147915
更新日期:1990-01-01 00:00:00
abstract:AIM:To evaluate if pulse pressure (PP) is a risk predictor for atrial fibrillation (AF) in a longitudinal study of 60-year-old men and women from Stockholm (n = 4,232), free from AF at baseline, with primary end-point incident AF. METHODS:AF diagnoses were obtained from the national hospital discharge register. The es...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2015.1100321
更新日期:2015-01-01 00:00:00
abstract:AIMS:This investigation was designed to explore the role of IL-1RN genotype in unexplained infant deaths (including sudden infant death syndrome (SIDS)), non-infectious infant deaths, and infectious infant deaths, and to investigate whether IL-1RN genotype is related to the finding of organisms in normally sterile site...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890903325360
更新日期:2010-01-01 00:00:00
abstract::With the last two decades, the importance of genetic factors in the aetiology of major mental illness has been firmly re-established and psychiatric research has now firmly embraced the era of molecular genetics. Despite a number of false starts in the study of schizophrenia and affective disorder, there have been suc...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899209147816
更新日期:1992-06-01 00:00:00