Genetic diseases can be caused by pure genetic factors or a combination of genetic and environmental factors. Mutations can occur in the autosomal chromosomes (chromosome 122), the sex chromosomes (X or Y), or the mitochondrial genome. Genetic diseases are transmitted from parents to offspring ...
1.1. The mitochondrial permeability transition pore (PTP) — a master of cell fate The occurrence of swelling in isolated mammalian mitochondria has been recognized since 1950s by several authors, who showed that this phenomenon was induced by Ca2+, phosphate (Pi) and free fatty acids (FFA), ...
Unlike nuclear molecular markers, mtDNA is of maternal inheritance, and does not experience intermolecular genetic recombination. In addition, the mitochondrial gene order can provide additional phylogenetic information, since rearrangements appear to be generally rare events, and most mitochondrial gene ...
CTX is caused by mutations in the gene CYP27A1, which encodes the mitochondrial enzyme sterol 27-hydroxylase, deficiency of which causes an excess of intermediate metabolites such as cholestanol to accumulate in virtually every tissue. Like many neurodegenerative disorders, CTX is characterized by an...
hemizygous or heterozygous variants in X-linked dominant disorders, hemizygous, homozygous variants or 2 heterozygous variants in trans in X-linked recessive disorders; variants in mitochondrial disorders. If the reported variants did not follow a specific inheritance pattern, the sample was classified as...
violations of uniparental inheritance of mitochondria, recombination events, natural heteroplasmy, and mtDNA haplotypic diversity. These factors may influence the congruence of phylogenetic inferences and trees constructed for the same organisms with different mtDNA markers or with mitochondrial and nuclear mar...
Describe how DNA, a specific genetic information, results in the formation of a protein. What type of DNA sequence has been used to trace human ancestry back to a very early human-like female? A. X chromosome DNA B. Y chromosome DNA C. Mit...
(P02943) and the mitochondrial voltage-gated anion channel VDAC1 (P21796). Most prediction tools have been developed to predict alpha-helical transmembrane domains, and they basically assume that a hydrophobic stretch of the polypeptide chain crosses the membrane by the shortest path, burying about...
Approval of somatic cell gene therapy by religious scholars was largely based on the argument that it was an extension of medicine. However, a more cautious response has characterized an attempt at alterations which may impact on the future generation’s genetic inheritance. It is important to not...
The purpose of the article is to illustrate the use of pedigree analysis to evaluate mtDNA diversity in a selected population of pedigree dogs, to describe the paths of mtDNA inheritance and to estimate the spread of potential pedigree errors or mutations that occurred in different generations of ...