Abstract:
BACKGROUND:Mitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. METHODS:We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset. RESULTS:The frequency of affected mothers of the proband with PD (83/167, 49.4%) was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4%) (Odds Ratio 1.22; 95%CI 0.83-1.81). After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother. CONCLUSIONS:These data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic mDNA mutations, contribute to the risk of familial PD.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Simon DK,Pankratz N,Kissell DK,Pauciulo MW,Halter CA,Rudolph A,Pfeiffer RF,Nichols WC,Foroud T,Parkinson Study Group-PROGENI Investigators.doi
10.1186/1471-2350-11-53subject
Has Abstractpub_date
2010-04-01 00:00:00pages
53issn
1471-2350pii
1471-2350-11-53journal_volume
11pub_type
杂志文章abstract:BACKGROUND:Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylch...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01173-0
更新日期:2020-11-30 00:00:00
abstract:BACKGROUND:CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combi...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0225-7
更新日期:2015-09-03 00:00:00
abstract:BACKGROUND:Recent investigations demonstrated many genetic contributions to the development of human age-related hearing impairment (ARHI), however, reports of factors associated with a reduction in the ARHI risk are rare. Folate metabolism is essential for cellular functioning. Despite the extensive investigations reg...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-35
更新日期:2011-03-07 00:00:00
abstract:BACKGROUND:Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-71
更新日期:2006-08-17 00:00:00
abstract:BACKGROUND:The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocyto...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-014-0111-8
更新日期:2014-10-10 00:00:00
abstract:BACKGROUND:X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0309-z
更新日期:2016-07-19 00:00:00
abstract:BACKGROUND:The chromosome 7q32 region is linked to metabolic syndrome and obesity related traits in the Family Heart Study. As part of a fine mapping study of the region, we evaluated the relationship of polymorphisms to fasting glucose levels and Type 2 diabetes. METHODS:Thirty-nine HapMap defined tag SNPs in a 1.08 ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-46
更新日期:2008-05-22 00:00:00
abstract:BACKGROUND:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-87
更新日期:2011-06-28 00:00:00
abstract:BACKGROUND:Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been pre...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-63
更新日期:2008-07-07 00:00:00
abstract:BACKGROUND:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-106
更新日期:2010-07-04 00:00:00
abstract:BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-68
更新日期:2010-05-02 00:00:00
abstract:BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0380-0
更新日期:2017-02-23 00:00:00
abstract:BACKGROUND:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-117
更新日期:2010-07-29 00:00:00
abstract:BACKGROUND:The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cy...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-165
更新日期:2011-12-20 00:00:00
abstract:BACKGROUND:Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been prop...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01081-3
更新日期:2020-07-03 00:00:00
abstract:BACKGROUND:Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported. CASE PRESENTATION:A 27-year-old man presented with CN and congenital cataracts and he underwent cat...
journal_title:BMC medical genetics
pub_type: 杂志文章,评审
doi:10.1186/s12881-019-0780-4
更新日期:2019-03-19 00:00:00
abstract:BACKGROUND:DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven primarily by the I.4 promoter however the role of DNA methylation in regulating expression in ex vi...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-87
更新日期:2013-08-30 00:00:00
abstract:BACKGROUND:Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulatio...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-59
更新日期:2010-04-14 00:00:00
abstract:BACKGROUND:The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms and antidepressant response in mood disorders. However the combined analysis of multiple gene polymor...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-27
更新日期:2004-12-09 00:00:00
abstract:BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01159-y
更新日期:2020-11-10 00:00:00
abstract:BACKGROUND:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0868-x
更新日期:2019-08-09 00:00:00
abstract:BACKGROUND:Bilateral posterior periventricular nodular heterotopia PNH is a complex malformation of cortical development with imaging features distinguishing it from classic bilateral PNH associated with filamin (FLNA) mutations. It distinctively consists of variably sized nodules of neurons along the trigones and temp...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0282-6
更新日期:2016-03-09 00:00:00
abstract:BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01123-w
更新日期:2020-09-21 00:00:00
abstract:BACKGROUND:Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in o...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0474-8
更新日期:2017-10-16 00:00:00
abstract:BACKGROUND:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-27
更新日期:2010-02-17 00:00:00
abstract:BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-25
更新日期:2004-10-21 00:00:00
abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...
journal_title:BMC medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1186/1471-2350-6-23
更新日期:2005-05-27 00:00:00
abstract:BACKGROUND:Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to de...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-019-0749-3
更新日期:2019-01-17 00:00:00
abstract:BACKGROUND:Type 2 diabetes mellitus is increasing dramatically in sub-Saharan Africa, and genetic predisposition is likely involved in that. Yet, genetic variants known to confer increased susceptibility among Caucasians are far from being established in African populations. In Ghanaian adults, we examined associations...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-96
更新日期:2013-09-23 00:00:00
abstract:BACKGROUND:I/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro as well as steroidogenesis and follicular growth in cattle. Since ACE induces a high blood supply and hypersteroidogenesis in the ovary, it may be associated ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-64
更新日期:2009-07-14 00:00:00