DNA, Mitochondrial ; genetics ; Deafness ; genetics ; Humans ; Mutation

Hearing Loss, Central ; physiopathology ; Humans ; Mitochondria ; pathology

Mitochondrial DNA (mtDNA) exhibits matrilineal inherence. Familial mitochondrial diseases caused by mtDNA mutations are generally involved in organs featuring high energy consumption, which include heart, brain and skeletal muscle. Recently, it has been found that some essential hypertension patients featured classical maternal inheritance, which has confirmed and enriched mtDNA mutations as one of the molecular mechanisms underlying maternally inherited hypertension. Nevertheless, more general as well as radical questions are still to be answered. This article reviews recent advance in mitochondrial genome evolution, mtDNA genetics and the role of mtDNA mutations in maternally inherited hypertension.
DNA, Mitochondrial ; genetics ; Evolution, Molecular ; Humans ; Hypertension ; genetics ; Mitochondria ; genetics ; Mutation

Adenoma ; diagnosis ; Child ; Diagnosis, Differential ; Humans ; Hypothyroidism ; pathology ; Magnetic Resonance Imaging ; Male ; Pituitary Gland ; pathology ; Pituitary Neoplasms ; diagnosis

Aged ; Carcinoma, Renal Cell ; complications ; Eosinophilia ; complications ; Humans ; Kidney Neoplasms ; complications ; Male ; Paraneoplastic Syndromes

It has been shown that mitochondria not only control their own Ca(2+) concentration ([Ca(2+)]), but also exert an influence over Ca(2+) signaling of the entire cell, including the endoplasmic reticulum or the sarcoplasmic reticulum, the plasma membrane, and the nucleus. That is to say, mitochondria couple cellular metabolic state with Ca(2+) transport processes. This review focuses on the ways in which the mitochondrial Ca(2+) handling system provides integrity and modulation for the cell to cope with the complex actions throughout its life cycle, enumerates some indeterminate aspects about it, and finally, prospects directions of future research.
Biological Transport ; Calcium Signaling ; Cell Membrane ; physiology ; Endoplasmic Reticulum ; physiology ; Mitochondria ; physiology ; Sarcoplasmic Reticulum ; physiology

Objective To investigate the feasibility and primary therapeutic effect of inverted Y-shaped self-expandable metal stent for complex airway stenosis.Methods On the standpoint of the peculiar anatomic structure and the pathological changes of complex airway stenosis,we designed the inverted Y-shaped self- expandable metal stent.Under the fluoroscopic guidance,7 stents were implanted in 7 cases of airway complex stenosis.Results The inverted Y-shaped self-expandable metal stents were placed seccussfully,with instantaneous relief of dyspnea and improvement of living quality.Conclusion The placement of inverted Y- shaped self-expandable metal stent is feasible and safe for treating airway complex stenosis.(J Intervent Radiol, 2007,16:92-94)

Background Leber hereditary optic neuropathy (LHON)is a common inherited eye disease,which generally affects young adults with bilateral loss of central vision.Mutation frequency of Leber hereditary has not been fully clarified. Objective This study was to investigate the mutation frequency of mitochondrial NDI gene associated with LHON in Chinese population. Methods The proposal of the study was approved by Ethic Committee of Wenzhou Medical College.Written informed consent was obtained from each subject initial of this trial.Eight hundred and ninety-four LHON patients and 134 normal subjects were collected.Genomic DNA was extracted from peripheral blood leukocytes of the all participants.Polymerase chain reaction (PCR) was used to amplify and sequence analysis of the mitochondrial ND1 gene was performed and aligned with revised Cambridge Reference Sequence(rCRS) of mitochondrial DNA.Then mutated gene frequency was screened and analyzed. Results Mutational analysis of mitochondrial ND1 gene in 894 LHON patients revealed the presence of G3316A,T3394C,G3460A,C3497T,G3635A,G3733A,and T4216C.11.19％ LHON patients (100/894 ) were found to be associated with the gene mutations mentioned above,and 3.24％ patients (29/894) showed the co-occurrence of three primary mutations.Mutation frequencies in LHON patients were 2.57％,2.23％,1.45％,3.80％,0.67％,0.11％,0.34％,respectively,and G3316A,T3394C,C3497T and T4216C also were detected in 134 normal controls with the mutation frequencies of 4.48％,2.99％,4.48％ and 1.49％,respectively.Mutation frequency analysis showed an insignificant difference in the mutations of G3316A,T3394C,C3497T and T4216C between LHON patients and normal controls (x2 =0.926,P=0.336;x2 =0.052,P=0.820; x2 =0.142,P=0.707;P=0.129).G3376A,G3496T,G3700A,A4136G,T4160C and C4171A were absent in Chinese LHON patients. Conclusions Mitoehondrial ND1 gene in LHON is a mutational hotspot in Chinese population,11.19％ (100/894)associated with LHON was caused by ND1 gene mutation.G3635A,G3733A may be rare pathological mutation in Chinese population.However,G3316A,T3394C,C3497T and T4216C are insufficient to produce the clinical phenotype,but they may play a synergic role for penetrance and phenotypic manifestation in LHON.

OBJECTIVETo investigate the frequency of microsatellite instability (MSI) and loss of heterozygosity (LOH) at human leucocyte antigen(HLA) class I loci in cervical carcinoma and the detailed deletion mapping in this region.

METHODSLOH and MSI of HLA class I genes were analyzed in 30 paired blood and tumor samples by PCR based single-stranded length polymorphism (PCR-SSLP).

RESULTSOf the 30 cases, 23(76.7%) showed LOH at one or more loci. Higher frequencies of LOH were found at four loci: C3_2_11 (50%), C1_4_4 (37%), C1_2_5 (36.7%), D6S276 (48.3%). MSI was found in 20 out of 30 cases (66.7%).

CONCLUSIONThe data suggest that the LOH and MSI of HLA class I gene might participate in the carcinogenesis of cervical carcinoma. Meanwhile, the minimal deletion region might be defined between C1_2_5 and C3_2_11, thus providing the evidence for cloning the tumor suppressor genes associated with cervical carcinoma.

Adult ; Aged ; Female ; Histocompatibility Antigens Class I ; genetics ; Humans ; Loss of Heterozygosity ; genetics ; Microsatellite Instability ; Middle Aged ; Polymerase Chain Reaction ; Uterine Cervical Neoplasms ; genetics

OBJECTIVETo report the clinical, genetic, and molecular characterization of two Chinese families with Leber's hereditary optic neuropathy (LHON).

METHODSOphthalmological examinations showed that only probands in two families exhibited visual loss at the age of 10 and 17 years respectively. The entire mitochondrial genome of two probands was PCR amplified in 24 overlapping fragments using sets of oligonucleotide primers.

RESULTSMutational analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated G11778A, G3460A and T144484 mutations but the presence of homoplastic LHON associated ND4 G11696A mutation, which was present in one out of 167 Chinese healthy controls.

CONCLUSIONSequence analysis of the complete mitochondrial genomes in two pedigrees showed the distinct sets of mtDNA polymorphisms, belonging to Eastern Asian haplogroup D4. The incomplete penetrance of visual loss and the presence of one in 167 controls suggested that this mutation itself is insufficient to produce a clinical phenotype and other modifier factors play a role in the phenotypic manifestation. The lack of functional mtDNA variants in these pedigrees ruled out the role of mitochondrial background in the phenotypic expression of visual loss. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in two Chinese pedigrees.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; DNA, Mitochondrial ; genetics ; Family ; Female ; Humans ; Male ; Mutation ; Optic Atrophy, Hereditary, Leber ; genetics ; Pedigree ; Phenotype