Humans ; Mitochondrial Diseases/prevention & control* ; DNA, Mitochondrial/genetics*

The mitochondrial DNA (mtDNA) is a small circular genome located within the mitochondria in the cytoplasm of the cell. Evidence of its existence first arose over 30 years ago. Now the field of the mitochondria is one of the fastest growing disciplines in biomedicine which is driven by fundamentally interesting questions. These questions are mainly about the way of mitochondria evolving and energy producing. In addition, what the consequences of mitochondrial genome mutations in diseases are? How program cell death is regulated? What happens to mitochondria when aging? These questions remain to be answered and the basic understanding of them will contribute to anthropological and forensic analysis, as well as therapy of many diseases. The following review has brought this question to notice by summarizing recent mitochondria research.
Aging/genetics* ; Apoptosis ; Cell Nucleus/genetics* ; DNA, Mitochondrial/genetics* ; Forensic Medicine ; Genome, Human/genetics* ; Humans ; Mitochondrial Diseases/prevention & control* ; Molecular Sequence Data ; Mutation ; Oligonucleotide Probes ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA

OBJECTIVETo analyze the molecular pathogenesis of deaf couples by means of genetic testing. To provide accurate genetic counseling and instruction for deaf couples with different etiology based upon results of genetic testing.

METHODSFour deaf families from July 2005 to May 2006. Each subject was with moderate to profound hearing loss. Genomic and mitochondrial DNA (mtDNA) of each subject were extracted from whole blood. Genetic testing of GJB2, SLC26A4 (PDS) and mtDNA A1555G mutation were offered to each individuals.

RESULTSThe husband from family 1 didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation while his wife was confirmed to carry compound SLC26A4 mutations. The possibility of their offspring's to be SLC26A4 single mutation carrier was 100%. The couple from family 2 both didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The possibility of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded. The husband from family 3 was confirmed to carry homozygous GJB2 mutations and a single SLC26A4 mutation while his wife who was diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan was proven to carry a single SLC26A4 mutation. The risk of their offspring's suffering EVAS was 50%. The husband from family 4 was mtDNA A1555G positive while his wife who was diagnosed with cochlear malformation by CT scan didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The risk of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded.

CONCLUSIONSGenetic testing could be applied to offer the more accurate genetic counseling and instruction to deaf couples.

Connexin 26 ; Connexins ; genetics ; DNA, Mitochondrial ; analysis ; Deafness ; diagnosis ; genetics ; prevention & control ; Female ; Genetic Counseling ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genotype ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Mutation

PURPOSE: The primary prevention for cervical cancer, the human papilloma virus (HPV) vaccination, has been available in South Korea and its importance has been emphasized publicly. The purpose of this study was to investigate the knowledge regarding HPV vaccination and identify the factors associated with HPV vaccination in female university students. METHODS: A sample of 200 women among university students in Seoul was asked to answer a questionnaire on HPV-related knowledge and attitude, and influencing factors on HPV vaccination. RESULTS: Among the respondents, 12.0% were HPV vaccinated. Overall HPV-related knowledge was low, and knowledge was not different between the vaccinated and unvaccinated groups. The vaccinated group demonstrated a higher score on the knowledge about the place where people could receive HPV vaccination and the cost of the vaccination than that of the unvaccinated group. The major influencing factor on vaccination was the parent's recommendation and the major barrier for vaccination was the cost of the vaccination. CONCLUSION: A broadened public campaign is recommended to increase the knowledge and positive attitude towards HPV vaccination for university female students as well as their parents.
Surveys and Questionnaires ; Female ; Humans ; Hypogonadism ; Mitochondrial Diseases ; Ophthalmoplegia ; Papilloma ; Papillomavirus Vaccines ; Parents ; Primary Prevention ; Republic of Korea ; Uterine Cervical Neoplasms ; Vaccination ; Viruses