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Homoplasmy
Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical.Heteroplasmy vs. Homoplasmy. University of Miami Faculty of Medicine. Accessed 21 October 2012. In normal and healthy tissues, all cells are homoplasmic. Homoplasmic mitochondrial DNA copies may be normal or mutated; however, most mutations are (only occurring in some copies of mitochondrial DNA). It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors. The term may also refer to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homoplasmy
Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical.Heteroplasmy vs. Homoplasmy. University of Miami Faculty of Medicine. Accessed 21 October 2012. In normal and healthy tissues, all cells are homoplasmic. Homoplasmic mitochondrial DNA copies may be normal or mutated; however, most mutations are (only occurring in some copies of mitochondrial DNA). It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors. The term may also refer to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nucleoid
The nucleoid (meaning ''nucleus-like'') is an irregularly shaped region within the prokaryotic cell that contains all or most of the genetic material. The chromosome of a prokaryote is circular, and its length is very large compared to the cell dimensions, so it needs to be compacted in order to fit. In contrast to the nucleus of a eukaryotic cell, it is not surrounded by a nuclear membrane. Instead, the nucleoid forms by condensation and functional arrangement with the help of chromosomal architectural proteins and RNA molecules as well as DNA supercoiling. The length of a genome widely varies (generally at least a few million base pairs) and a cell may contain multiple copies of it. There is not yet a high-resolution structure known of a bacterial nucleoid, however key features have been researched in ''Escherichia coli'' as a model organism. In ''E. coli'', the chromosomal DNA is on average negatively supercoiled and folded into plectonemic loops, which are confined to differen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heteroplasmy
Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases. Because most eukaryotic cells contain many hundreds of mitochondria with hundreds of copies of mitochondrial DNA, it is common for mutations to affect only some mitochondria, leaving most unaffected. Although detrimental scenarios are well-studied, heteroplasmy can also be beneficial. For example, centenarians show a higher than average degree of heteroplasmy. At birth, all copies of mitochondrial DNA are thought to be identical in most humans. Microheteroplasmy is mutations of up to about 2−5% of mitochondrial genomes, and is present in most adults. This refers to hundreds of independent mutations in one organism, with each mutation found in about 1–2% of all mitochondrial genomes. Very low-level heteroplasmic variance is present in essentially all individuals, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms among all individuals with such mutation. For example, if a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not. A condition, most commonly inherited in an autosomal dominant manner, is said to show complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation. A condition which shows complete penetrance is neurofibromatosis type 1 – every person who has a mutation in the gene will show symptoms of the condition. The penetrance is 100%. Common examples used to show degrees of penetrance are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tobacco Smoke
Tobacco smoke is a sooty aerosol produced by the incomplete combustion of tobacco during the tobacco smoking, smoking of cigarettes and other tobacco products. Temperatures in burning cigarettes range from about 400 °C between puffs to about 900 °C during a puff. During the burning of the cigarette tobacco (itself a complex mixture), thousands of chemical substances are generated by combustion, distillation, pyrolysis and pyrosynthesis. Tobacco smoke is used as a fumigant and inhalant. Composition The particles in tobacco smoke are liquid aerosol droplets (about 20% water), with a mass median aerodynamic diameter (MMAD) that is submicrometer (and thus, fairly "lung-respirable" by humans). The droplets are present in high concentrations (some estimates are as high as 1010 droplets per cm3). Most cigarettes today contain a cigarette filter, which can reduce "Tar (tobacco residue), tar" and nicotine smoke yields up to 50% by several different mechanisms, with an even ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Visual Impairment
Visual impairment, also known as vision impairment, is a medical definition primarily measured based on an individual's better eye visual acuity; in the absence of treatment such as correctable eyewear, assistive devices, and medical treatment– visual impairment may cause the individual difficulties with normal daily tasks including reading and walking. Low vision is a functional definition of visual impairment that is chronic, uncorrectable with treatment or correctable lenses, and impacts daily living. As such low vision can be used as a disability metric and varies based on an individual's experience, environmental demands, accommodations, and access to services. The American Academy of Ophthalmology defines visual impairment as the best-corrected visual acuity of less than 20/40 in the better eye, and the World Health Organization defines it as a presenting acuity of less than 6/12 in the better eye. The term blindness is used for complete or nearly complete vision loss. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinal Ganglion Cell
A retinal ganglion cell (RGC) is a type of neuron located near the inner surface (the ganglion cell layer) of the retina of the human eye, eye. It receives visual information from photoreceptor cell, photoreceptors via two intermediate neuron types: Bipolar cell of the retina, bipolar cells and retina amacrine cells. Retina amacrine cells, particularly narrow field cells, are important for creating functional subunits within the ganglion cell layer and making it so that ganglion cells can observe a small dot moving a small distance. Retinal ganglion cells collectively transmit image-forming and non-image forming visual information from the retina in the form of action potential to several regions in the thalamus, hypothalamus, and mesencephalon, or midbrain. Retinal ganglion cells vary significantly in terms of their size, connections, and responses to visual stimulation but they all share the defining property of having a long axon that extends into the brain. These axons form th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leber's Hereditary Optic Neuropathy
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother, as it is primarily due to mutations in the mitochondrial (not nuclear) genome, and only the egg contributes mitochondria to the embryo. LHON is usually due to one of three pathogenic mitochondrial DNA (mtDNA) point mutations. These mutations are at nucleotide positions 11778 G to A, 3460 G to A and 14484 T to C, respectively in the ND4, ND1 and ND6 subunit genes of complex I of the oxidative phosphorylation chain in mitochondria. Men cannot pass on the disease to their offspring. Signs and symptoms Clinically, there is an acute onset of visual loss, first in one eye, and then a few weeks to months later in the other. Onset is usually young adulthood, b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organelle
In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' the suffix ''-elle'' being a diminutive. Organelles are either separately enclosed within their own lipid bilayers (also called membrane-bound organelles) or are spatially distinct functional units without a surrounding lipid bilayer (non-membrane bound organelles). Although most organelles are functional units within cells, some function units that extend outside of cells are often termed organelles, such as cilia, the flagellum and archaellum, and the trichocyst. Organelles are identified by microscopy, and can also be purified by cell fractionation. There are many types of organelles, particularly in eukaryotic cells. They include structures that make up the endomembrane system (such as the nuclear envelope, endoplasmic reticulum, and G ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrion
A mitochondrion (; ) is an organelle found in the cells of most Eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used throughout the cell as a source of chemical energy. They were discovered by Albert von Kölliker in 1857 in the voluntary muscles of insects. The term ''mitochondrion'' was coined by Carl Benda in 1898. The mitochondrion is popularly nicknamed the "powerhouse of the cell", a phrase coined by Philip Siekevitz in a 1957 article of the same name. Some cells in some multicellular organisms lack mitochondria (for example, mature mammalian red blood cells). A large number of unicellular organisms, such as microsporidia, parabasalids and diplomonads, have reduced or transformed their mitochondria into other structures. One eukaryote, ''Monocercomonoides'', is known to have completely lost its mitochondria, and one multicellular organism, '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biparental Inheritance
Biparental inheritance is a type of biological inheritance where the progeny inherits a maternal and a paternal allele for one gene. It is one of the criteria for Mendelian inheritance. Sexual reproduction, where offspring result from the fusion of gametes from two parents, is the most common form of biparental inheritance. While less common, cases of biparental inheritance in extranuclear genes have been documented, such as biparental inheritance of mitochondrial DNA, or chloroplast DNA in plants. Biparental inheritance of nuclear DNA by way of sexual reproduction can allow for new combinations of alleles from each contributing parent. The production of gametes through meiosis can sometimes include recombination, or crossing-over, which is a possibility for novel combinations of alleles. Mendelian inheritance Biparental inheritance is a requirement for a trait to be characterized as Mendelian. If the gene does not have alternate forms, described as alleles, which can differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
