Journal of

Genetics and Genome ResearchISSN: 2378-3648


 Open Access DOI:10.23937/2378-3648/1410011

Relationship of Mitochondrial DNA Haplogroups with Complex Diseases

Carlos G Urzua-Traslavina, Maria G Moreno-Trevino, Denisse A Martinez-Trevino, Hugo A Barrera-Saldana and Rafael BR Leon-Cachon

Article Type: Review Article | First Published: December 16, 2014

Mitochondria are responsible for energy production in unicellular and multicellular eukaryotes. Apart from their major role in metabolism, mitochondria are involved in many other cellular processes. A new paradigm is needed to understand aging, aging-related illnesses, and complex diseases. Because of the long co-evolution of mitochondria with the cells, subtle variations in the function of these organelles could influence many organ systems. Understanding the extent of this influence will shed ...

 Open Access DOI:10.23937/2378-3648/1410010

Oxidative Stress and the Epigenome in Human Disease

Adriana Arita and Max Costa

Article Type: Review Article | First Published: December 15, 2014

Epigenetics refers to the study of the changes in gene expression that occur without changes in the DNA sequence. There is growing evidence that epigenetic modifications such as changes in the levels of DNA methylation or post-translational histone modifications are involved in the pathogenesis of many human diseases including cancer. Oxidative stress as a result of metabolic or environmental factors leads to excessive production of reactive oxygen species (ROS). ROS plays a role in many human d...

 Open Access DOI:10.23937/2378-3648/1410009

Discordant Disease Course in a Monozygotic Twin Pair with Juvenile Myelomonocytic Leukemia

Silvia Bresolin, Paola De Filippi, Claudia Cagioni, Simone Cesaro, Annamaria Di Meglio, Anna Leszl, Fiorenza Aprili, Chiara Cugno, Chiara Frasson, Marco Zecca, Cesare Danesino and Geertruyte Kronnie

Article Type: Research Article | First Published: December 14, 2014

Juvenile myelomonocytic leukemia is a rare neoplastic disorder occurring in early childhood often showing an aggressive progression. We report a case of a twin pair with concordant JMML but an extremely different disease course. Both twins presented with somatic aberrations of chromosome 7 and mutations in PTPN11. Analysis of sorted BM and PB cell populations revealed the clonal nature of the disease and indicated that genomic aberrations arise from common hematopoietic precursor cells. PTPN11 m...

 Open Access DOI:10.23937/2378-3648/1410008

Experimental Detection of Mitochondrial DNA Insertions in Nuclear Genome of Chicken Embryos Developed from X-Ray Irradiated Eggs

Serazhutdin A. Abdullaev and Azhub I. Gaziev

Article Type: Research Article | First Published: December 08, 2014

The transfer of mitochondrial DNA (mtDNA) into the nuclear genome is a dynamic process, resulting in the formation of nuclear mitochondrial (numt) pseudogenes or numt-insertions. Experimental determination of de novo numt-insertions is limited by the extensive homology of mtDNA in the nuclear DNA (nDNA) of eukaryotes. Since chicken nDNA contains only 13 numtpseudogenes, we tried to follow experimentally the induction of numt-insertions de novo in the nDNA of chicken (Gallus gallus) embryos devel...

 Open Access DOI:10.23937/2378-3648/1410007

Variation H452Y in HTR2A Gene Effects Immediate Visual Memory

Nesli Avgan, Heidi G. Sutherland, Lauren K. Spriggens, Astrid J. Rodriguez-Acevedo, Larisa M. Haupt, David H. K. Shum and Lyn R. Griffihs

Article Type: Research Article | First Published: November 12, 2014

Serotonin and its receptors, including the 5-Hydroxytryptamine Receptor 2A encoded by the HTR2A gene, are important for learning and memory in animals and humans.Polymorphic variation in the HTR2A gene, which encodes the 5-HT2Aserotonin receptor, has previously been shown to associate with some memory traits,in particular effecting delayed verbal memory. In the current study we have examined the HTR2A His452Tyr (H452Y) substitution for association in a cohort of healthy individuals whose memory ...

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