Although inherited mitochondrial genetic variation can cause human disease, no validated methods exist for control of confounding due to mitochondrial population stratification (PS). We sought to identify a reliable method for PS assessment in mitochondrial medical genetics. We analyzed mitochondrial SNP data from 1513 European American individuals concomitantly genotyped with the use of a prev...

Sutarno (2010) Genetic variations among Indonesian native cattle breeds based on polymorphisms analysis in the growth hormone loci and mitochondrial DNA. Biodiversitas 11: 1-5. Genetic variation within breeds is important and its study has become a subject of interest in livestock species, as it has many applications in animal breeding and genetics, such as the identification of animals and par...

The central role of the mitochondrion for cellular and organismal metabolism is well known, yet its functional role in evolution has rarely been featured in leading international conferences. Moreover, the contribution of mitochondrial genetics to complex disease phenotypes is particularly important, and although major advances have been made in the field of genomics, mitochondrial genomic data...

There are well-known difficulties in using the cytochrome oxidase I (COI) mitochondrial gene region for population genetics and DNA barcoding in corals. A recent study of species divergence in the endemic Caribbean genus Agaricia reinforced such knowledge. However, the growing availability of whole mitochondrial genomes may help indicate more promising gene regions for species delineation. I as...

Prostate cancer is the second leading cause of cancer deaths among men in the United States,but the precise molecular events leading to prostate carcinogenesis are not well understood. We isolated histologically defined cell populations from prostate cancer and its preinvasive lesions using laser capture microdissection, and performed genetic analysis on the mitochondrial genome, a sensitive cy...

The past two decades have witnessed remarkable advances in our understanding of the clinical presentation, genetics and even the pathophysiology of the hereditary optic neuropathies, specifically Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA)1-4. We now know that most of the hereditary optic neuropathies, including LHON and DOA, have a pathophysiology reflecting a fin...

RATIONALE Mutations of the orphan transporter ABCC6 (ATP-binding cassette, subfamily C, member 6) cause the connective tissue disorder pseudoxanthoma elasticum. ABCC6 was thought to be located on the plasma membrane of liver and kidney cells. OBJECTIVE Mouse systems genetics and bioinformatics suggested that ABCC6 deficiency affects mitochondrial gene expression. We therefore tested whether A...