Purpose of Review Alzheimer's disease (AD) is the most common form of dementia, affects an increasing number of people worldwide, has a rapidly increasing incidence, and is fatal. In the past several years, significant progress has been made towards solving the genetic architecture of AD, but our understanding remains incomplete and has not led to treatments that either cure or slow disease. Th...

Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes Ronghua Li and Min-Xin Guan* Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, and Department of Pediatrics, University of Cincinnati Coll...

Complete mitochondrial genome (mitogenome) sequences can provide useful and varied information for evolutionary phylogenetic studies. We report the first complete mitogenome sequence of bumblebee shrimp (Gnathophyllum americanum). The is 15,842 bp in length contains 13 protein-encoding genes, 2 ribosomal RNA 22 transfer genes. nucleotide composition was as follows: A,36.72%; T,29.62%; C,21.0%; ...

The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been remained to be disclosed about the genetics of ASD. Scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to ASD. These only comprise a small ...

Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival high-throughput studies. Several appealing properties justify application mtDNA to understand how human populations are—from genetic perspective—and individuals exhibit phenotypes biomedical importance. Here, I rev...

We consider the effect on the distribution of pairwise differences between mitochondrial DNA sequences of the incorporation into the underlying population genetics model of two particular effects that seem realistic for human populations. The first is that the population size was roughly constant before growing to its current level. The second is that the population is geographically subdivided...