1,724,222 research outputs found
The 4977 Bp Deletion of Mitochondrial DNA as a Potential Trait Marker for Major Depressive Disorder
Get PDFYing He,1,* Xinbo Yang,1,* Zongchang Li,1 Weiqing Liu,2,3 Jinsong Tang,4 Xiaogang Chen1 1Department of Psychiatry, National Clinical Research Center for Mental Disorders, and National Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, Hunan, 410011, People’s Republic of China; 2Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine, Tongji University, Shanghai, 200122, People’s Republic of China; 3Laboratory for Molecular Mechanisms of Brain Development, Center for Brain Science (CBS), RIKEN, Wako, Saitama, Japan; 4Department of Psychiatry, Zhejiang University School of Medicine Sir Run Run Shaw Hospital, Hangzhou, Zhejiang, People’s Republic of China*These authors contributed equally to this workCorrespondence: Ying He, Email [email protected]: Major depressive disorder (MDD) is significantly influenced by genetic factors. The present study aims to examine the potential correlation between the 4977 bp deletion of mitochondrial DNA (mtDNA) and MDD.Methods: The 4977 bp deletion of mtDNA was detected in the peripheral blood of 253 MDD patients and 257 healthy controls, with depression assessed by the Hamilton Depression Rating scale and functioning by the Global Assessment of Function Scale.Results: MDD patients had a higher incidence of the 4977 bp deletion, unaffected by demographic or clinical factors.Conclusion: The 4977 bp deletion may be a trait marker for MDD.Keywords: major depressive disorder, mitochondrial DNA deletion, mtDNA deletion, 4977 bp deletio
Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma
Get PDFBACKGROUND: The most common and also the most often assayed mtDNA
deletion mutation, \u394mtDNA 4977sub has been demonstrated in various
types of human cancer. However, knowledge about \u394mtDNA 4977 in
lung carcinoma is poor. AIM: To study the 4977 bp deletions of
mitochondrial DNA (\u394mtDNA 4977) in lung cancer, adjacent
histologically normal and normal lung tissue and its potential roles in
the development of cancer. MATERIALS AND METHODS: Thirty-seven matched
lung cancer/adjacent histologically normal and 20 histologically normal
lung tissue samples in subjects without lung cancer were analyzed by
PCR technique. RESULTS: \u394mtDNA 4977 deletions were detected in
54.1% (20/37) of lung cancers, 59.5% (22/37) of adjacent normal and
30.0% (6/20) of normal lung tissue samples. No significant difference
was found in the frequency of \u394mtDNA 4977 deletions between the
tumor and adjacent normal lung tissues ( P value = 0.815). Moreover, no
significant difference was found in the frequency of \u394mtDNA 4977
deletions between the tumor and histologically normal lung tissues in
subjects without lung cancer ( P value = 0.101). However, the
correlation between \u394mtDNA 4977 deletion and age and smoking
factors was present in our data. STATISTICAL ANALYSIS: Fisher's exact
test was used to assess the difference in different groups by the
Scientific Package for Social Sciences (SPSS), version 10.0,
Statistical analysis software. CONCLUSIONS: Mitochondrial DNA 4977 bp
deletion, which is not specific to lung cancer, may reflect the
environmental and aging process influences operative during tumor
progression
Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity.
No full textLarge deletions in mitochondrial DNA (mtDNA) may be involved in the pathogenesis of mitochondrial disease. In this study, we investigated the relationship between a 4,977-bp deletion in the mitochondrial genome (ΔmtDNA(4977)) and the severity of clinical symptoms in patients with mitochondrial disease lacking known point mutations. A total of 160 patients with mitochondrial disease and 101 healthy controls were recruited for this study. The copy numbers of ΔmtDNA(4977) and wild-type mtDNA were determined by real-time quantitative PCR and analyzed using Spearman's bivariate correlation analysis, t-tests, or one-way ANOVA. The overall ΔmtDNA(4977) copy number per cell and the proportion of mtDNA(4977) relative to the total wild-type mtDNA, increased with patient age and symptom severity. Surprisingly, the total mtDNA copy number decreased with increasing symptom severity. Our analyses revealed that increases in the proportion and total copy number of ΔmtDNA(4977) in the blood may be associated with disease severity in patients with mitochondrial dysfunction
The mitochondrial dna 4977 bp deletion in breast cancer patients
No full textThe large scale deletions of mitochondrial DNA, the common 4977 bp deletion was identified in many different diseases, including cancer. However, understanding of the relationship between 4977 bp deletion of mitochondrial DNA and breast cancer have not been fully elucidated. The studies of this mutation have not been carried out in patients with breast cancer in Vietnam so far. In this study, we identified 4977 bp deletion of mitochondrial DNA in patients with breast cancer. Using nested PCR with two primer pairs, we detected 4977 bp deletion in patients with breast cancer at the rate of 89.42% and this deletion associated with breast cancer in Vietnam. The percentage of 4977 bp deletion in adjacent tissues (70.04%) is higher than in tumor tissue (60.58%) (p0.05). Using cloning method and DNA sequencing of PCR products, some large scale deletions in mitochondrial DNA were also found in the breast tissue of breast cancer patients, including: 4753, 5012, 5065, 5156, 5248 and 5266 bp deletions. These deletions are new and have not been found in the published works in the world so far. The 4977 bp deletion did not depend on the pathological characteristics of patients with breast cancer as age of patient, TNM stage, grade of differentiation
Accumulation of mitochondrial DNA with 4977-bp deletion in knee cartilage – an association with idiopathic osteoarthritis
No full textSummaryObjectiveSince mitochondrial DNA (mtDNA) mutations have been established to associate with the aging process and some degenerative diseases, we investigated the correlation between idiopathic osteoarthritis (OA) and the 4977-bp mtDNA deletion.DesignCartilage were collected from six sites in knee joints removed from 18 aged patients with idiopathic OA, 10 aged non-OA cadavers, 3 young cadavers (YC), and lateral femoral condyle of 9 young patients. Histopathologic changes were examined and the common 4977-bp mtDNA deletions were analyzed in young and elderly cartilages obtained from different sites in the knee joint. The association of the 4977-bp deletion of mtDNA with idiopathic OA and aging was evaluated.ResultsThe 4977-bp mtDNA deletion was detected in 17 of the 18 OA patients, 9 of the 10 aged non-OA cadavers, and 1 of the 3 YC. None of the nine specimens collected from the lateral femoral condyle of young patients had a detectable deletion of mtDNA. The 4977-bp mtDNA deletion was not significantly correlated with the severity of OA graded by the Mankin score. The frequencies of occurrence of the 4977-bp mtDNA deletion were significantly different between the OA group and the aged non-OA control group (P=0.004) and between the aged non-OA group and the young control group (P=0.002).ConclusionsThe results suggest that accumulation of the 4977-bp deletion of mtDNA in knee cartilage increases with age and may play a role in the development of idiopathic OA in the knee joint
Comparison of patients with and without the 4977 deletion.
No full textComparison of patients with and without the 4977 deletion.</p
Original Article - Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma
No full textBACKGROUND: The most common and also the most often assayed mtDNA
deletion mutation, ΔmtDNA 4977sub has been demonstrated in various
types of human cancer. However, knowledge about ΔmtDNA 4977 in
lung carcinoma is poor. AIM: To study the 4977 bp deletions of
mitochondrial DNA (ΔmtDNA 4977) in lung cancer, adjacent
histologically normal and normal lung tissue and its potential roles in
the development of cancer. MATERIALS AND METHODS: Thirty-seven matched
lung cancer/adjacent histologically normal and 20 histologically normal
lung tissue samples in subjects without lung cancer were analyzed by
PCR technique. RESULTS: ΔmtDNA 4977 deletions were detected in
54.1% (20/37) of lung cancers, 59.5% (22/37) of adjacent normal and
30.0% (6/20) of normal lung tissue samples. No significant difference
was found in the frequency of ΔmtDNA 4977 deletions between the
tumor and adjacent normal lung tissues ( P value = 0.815). Moreover, no
significant difference was found in the frequency of ΔmtDNA 4977
deletions between the tumor and histologically normal lung tissues in
subjects without lung cancer ( P value = 0.101). However, the
correlation between ΔmtDNA 4977 deletion and age and smoking
factors was present in our data. STATISTICAL ANALYSIS: Fisher's exact
test was used to assess the difference in different groups by the
Scientific Package for Social Sciences (SPSS), version 10.0,
Statistical analysis software. CONCLUSIONS: Mitochondrial DNA 4977 bp
deletion, which is not specific to lung cancer, may reflect the
environmental and aging process influences operative during tumor
progression
Original Article - Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma
Get PDFBACKGROUND: The most common and also the most often assayed mtDNA
deletion mutation, ΔmtDNA 4977sub has been demonstrated in various
types of human cancer. However, knowledge about ΔmtDNA 4977 in
lung carcinoma is poor. AIM: To study the 4977 bp deletions of
mitochondrial DNA (ΔmtDNA 4977) in lung cancer, adjacent
histologically normal and normal lung tissue and its potential roles in
the development of cancer. MATERIALS AND METHODS: Thirty-seven matched
lung cancer/adjacent histologically normal and 20 histologically normal
lung tissue samples in subjects without lung cancer were analyzed by
PCR technique. RESULTS: ΔmtDNA 4977 deletions were detected in
54.1% (20/37) of lung cancers, 59.5% (22/37) of adjacent normal and
30.0% (6/20) of normal lung tissue samples. No significant difference
was found in the frequency of ΔmtDNA 4977 deletions between the
tumor and adjacent normal lung tissues ( P value = 0.815). Moreover, no
significant difference was found in the frequency of ΔmtDNA 4977
deletions between the tumor and histologically normal lung tissues in
subjects without lung cancer ( P value = 0.101). However, the
correlation between ΔmtDNA 4977 deletion and age and smoking
factors was present in our data. STATISTICAL ANALYSIS: Fisher's exact
test was used to assess the difference in different groups by the
Scientific Package for Social Sciences (SPSS), version 10.0,
Statistical analysis software. CONCLUSIONS: Mitochondrial DNA 4977 bp
deletion, which is not specific to lung cancer, may reflect the
environmental and aging process influences operative during tumor
progression
Common 4977 bp deletion and novel alterations in mitochondrial DNA in Vietnamese patients with breast cancer
No full textMitochondrial DNA (mtDNA) has been proposed to be involved in carcinogenesis and ageing. The mtDNA 4977 bp deletion is one of the most frequently observed mtDNA mutations in human tissues and may play a role in breast cancer (BC). The aim of this study was to investigate the frequency of mtDNA 4977 bp deletion in BC tissue and its association with clinical factors. We determined the presence of the 4977 bp common deletion in cancer and normal paired tissue samples from 106 Vietnamese patients with BC by sequencing PCR products. The mtDNA 4977 bp deletion was significantly more frequent in normal tissue in comparison with paired cancer tissue. Moreover, the incidence of the 4977 bp deletion in BC tissue was significantly higher in patients with estrogen receptor (ER) positive as compared with ER negative BC tissue. Preliminary results showed, in cancerous tissue, a significantly higher incidence of novel deletions in the group of patients with lymph node metastasis in comparison with the patients with no lymph node metastasis. We have found 4977 bp deletion in mtDNA to be a common event in BC and with special reference to ER positive BC. In addition, the novel deletions were shown to be related to lymph node metastasis. Our finding may provide complementary information in prediction of clinical outcome including metastasis, recurrence and survival of patients with BC
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