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Topic: Mitochondrial genetics

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	Human mitochondrial genetics - Wikipedia, the free encyclopedia
		Mitochondrial genetics are the genetics of the DNA contained in mitochondria, eukaryotic cell organelles that generate adenosine triphosphate from pyruvic acid and are hence referred to as the "powerhouses" of the cell.
		Mitochondrial inheritance is therefore non-Mendelian, as Mendelian inheritance presumes that half the genetic material of a zygote derives from each parent.
		Mitochondrial DNA (mtDNA) is present in mitochondria as a circular molecule and in most species codes for 13 or 14 proteins involved in the electron transfer chain, 2 rRNA subunits and 22 tRNA molecules (all necessary for protein synthesis).
	en.wikipedia.org /wiki/Mitochondrial_genetics (2472 words)

	Mitochondrial DNA - Genetics Home Reference
		Mitochondrial genes are among the estimated 20,000 to 25,000 total genes in the human genome.
		Mitochondrial DNA is prone to noninherited (somatic) mutations.
		Mitochondrial DNA is typically diagrammed as a circular structure with genes and regulatory regions labeled.
	ghr.nlm.nih.gov /chromosome=MT (1399 words)

	LTU: Microbiology: Dictyostelium Mitochondrial Genetics Laboratory
		The genetic processes involved are quite different from those in the nucleus and in the cytoplasm of the eukaryotic host - in fact they are strikingly similar to the genetic processes found in bacteria.
		Anna Figueiredo, Honours, 2000: Identification and Characterization of the Nuclear-Encoded Mitochondrial RNA Polymerase in Dictyostelium discoideum.
		Jonathon Brodie, Honours, 2005: Cloning and characterisation of the gene encoding mitochondrial prohibitin in Dictyostelium discoideum.
	www.latrobe.edu.au /microbiology/barth.html (1511 words)

	Mitochondrial DNA Summary
		Genetic diseases involving these genes show a distinctive pattern of inheritance in which the trait is passed from an affected female to all of her children.
		The existence of mitochondrial DNA also supports the endosymbiotic theory, which suggests that eukaryotic cells first appeared when a prokaryotic cell was absorbed into another cell without being digested.
		The concept of the Mitochondrial Eve is based on the same type of analysis, attempting to discover the origin of humanity by tracking the lineage back in time.
	www.bookrags.com /Mitochondrial_DNA (1094 words)

	NeuroCAST - Genetics and Diagnosis of Mitochondrial Disorders
		This article is a brief review of mitochondrial genetics, disorders, and their diagnosis for neurologists, geneticists, genetic counselors, and other healthcare professionals involved in the care of people with complex neurological diseases that may be due to mitochondrial dysfunction.
		Mitochondrial DNA is a double-stranded, closed, circular molecule 16.5 kilo bases in length and containing 37 genes.
		The mechanism of mitochondrial movement during cell division is a current research topic and many researchers believe that this is an elaborate process managed by complex cytoskeletal processes.
	www.neurocast.com /site/content/sessions_02_2002.asp (1644 words)

	Clinical mitochondrial genetics -- Chinnery et al. 36 (6): 425 -- Journal of Medical Genetics
		Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
		A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
		Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy.
	jmg.bmjjournals.com /cgi/content/full/36/6/425 (7132 words)

	Mitochondrial Disease — Genetics
		Maternally inherited mitochondrial disorders are not rare, and possibly are as common as autosomal recessive mitochondrial disorders.
		However, people with maternally inherited mitochondrial disease and their maternal relatives usually have heteroplasmic cells, meaning that some of the mtDNA are normal (do not contain the mutation) and some are not normal (do contain the mutation).
		Unlike autosomal recessive mitochondrial disorders, the onset of maternally inherited mitochondrial disorders is usually later in life, including in toddlers, preschoolers, school-aged children, adolescents, or adults.
	www.umdf.org /mito_info/genetics.aspx (2511 words)

	UCI to study mitochondrial role in diabetes, obesity and cardiovascular disease
		Douglas C. Wallace, a founder of the field of human mitochondrial genetics, has received a $2.25 million award from the Doris Duke Charitable Foundation to study how metabolic disorders may be triggered by genetic changes in the mitochondria, the power plants of human cells.
		Mitochondrial medicine offers innovative new perspectives and approaches for addressing the common age-related diseases associated with the metabolic syndrome as well as with forms of blindness, deafness, movement disorders and dementias -- clinical problems that remain elusive to traditional biomedical concepts and approaches.
		Wallace and his associates have already linked mitochondrial defects to a wide range of age-related disease symptoms and have shown that mild alterations in the mitochondrial DNA blueprints were critical for our ancient ancestors to adapt to their to colder northern latitudes as they moved out of Africa into temperate and arctic Eurasia.
	www.eurekalert.org /pub_releases/2006-02/uoc--uts020706.php (934 words)

	Medical Genetics - Mitochondrial Inheritance: Leber's Optic Atrophy (Site not responding. Last check: 2007-10-14)
		Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that also contain genes that are separate from the ones in the nucleus.
		If there is a mutation in a mitochondrial gene, it is passed from a mother to all of her children; sons will not pass it on, but daughters will pass it on to all of their children, and so on.
		Males will not pass the gene to any of their children, but females with the mutation will pass it to all of their children, regardless of whether they are sons or daughters.
	www.musckids.com /health_library/genetics/mitochon.htm (188 words)

	Mitochondrial disease - Wikipedia, the free encyclopedia
		Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that comprise higher-order lifeforms (including humans).
		Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria and/or are due to mitochondrial DNA.
		Mitochondrial disease begins to become apparent once the number of affected mitochondria reaches a certain level; this phenomenon is called 'threshold expression'.
	en.wikipedia.org /wiki/Mitochondrial_disease (737 words)

	Brown University Dept. of Ecology & Evolutionary Biology
		The population biology mitochondrial DNA and its phylogenetic implications.
		The mitochondrial free radical theory of aging posiits that physiological decline is due to accumulated effects of free radical damage stemming from mitochondrial respiration.
		We are attempting to dissect the genetic architecture of nuclear-mtDNA Interactions through enzyme assays of mitochondrial enzyme complexes, and comparative sequence Analysis.
	www.brown.edu /Departments/EEB/rand/research.htm (1031 words)

	Mitochondrial References (M-Z), "The Biglist" (Site not responding. Last check: 2007-10-14)
		Malyarchuk, B. "[Distribution of mitochondrial DNA markers in the European populations of Eurasia]." Genetika 33(7):986-991.
		Meirelles, F. and Smith, L. "Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation." Genetics 145(2):445-451.
		Murdock, D., Boone, B. E., Esposito, L. and Wallace, D. "Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator." Journal of Biological Chemistry 274(20):14429-14433.
	www.mitomap.org /biglist_M_Z.html (12048 words)

	Brown University Dept. of Ecology & Evolutionary Biology
		Population genetics and evolution of animal mitochondrial DNA.
		Ecological genetics of the Mpi and Gpi polymorphisms in the northern acorn barnacle and the spatial scale of neutral and non-neutral variation.
		Rand, D.M. Mitochondrial genetics of aging: problems in inter-genomic conflict resolutions.
	www.brown.edu /Departments/EEB/rand/pubs.htm (536 words)

	Mitochondrial Genetics Laboratory
		Mitochondrial iron homeostasis is vital for OXPHOS maintenance and anti-oxidant protection.
		Both the heme and iron-sulfur cluster biosynthetic pathways depend on a constant supply of iron to the mitochondrial matrix, where micromolar concentrations of iron must be kept in reduced, available, and non-toxic form.
		FRDA (http://www.ncbi.nlm.nih.gov/Omim) is a genetic degenerative disease that affects the central nervous system and the heart of children, adolescents and young adults, with a frequency of 1/40,000 newborns, corresponding to approximately 100 new cases per year in the US.
	mayoresearch.mayo.edu /mayo/research/isayalab (358 words)

	Carlos T. Moraes Ph.D.
		Although mitochondrial genetics of yeast and trypanosomes has been extensively explored in the last 20 years, the study of human mitochondrial DNA (mtDNA) gained momentum in 1988 with the discovery of diseases associated with mtDNA mutations.
		The contribution of the mitochondrial genome to cellular respiration, though vital, is not sufficient.
		Besides bona-fide mitochondrial diseases, we are analyzing the role of mitochondrial dysfunction in age-related neurodegenerative disorders.
	chroma.med.miami.edu /cellbio/Moraes/Moraes.html (968 words)

	Special: DNA unraveled
		Diabetes is unusually frequent in mitochondrial diseases, and about 2 percent of patients with adult-onset (type II) diabetes have known mutations in mtDNA, often with deafness.
		Nevertheless, many symptoms of mitochondrial diseases, such as muscle weakness, diabetes, vision loss, hearing loss, and dementia, are also the hallmarks of aging.
		One well-known result of such investigations has been the identification of the "mitochondrial Eve," a hypothetical woman (or, more accurately, group of women) who lived about 200,000 years ago in Africa: the mothers of us all, as everyone today carries the progeny of their mitochondrial DNA.
	www.columbia.edu /cu/21stC/issue-1.3/dna-mitoch.html (1202 words)

	Oxford University Press
		Molecular genetics has revolutionised our understanding of human disease and nowhere is this more apparent than the group of diseases caused by mitochondrial dysfunction.
		The concept of mitochondrial diseases dates back only as far as the 1960s, and they were given little credence until mutations in mitochondrial DNA were found in the late 1980s.
		Mitochondrial diseases are an increasingly recognised cause of inherited disease, most clinicians are now aware of this group of diseases and those involved in genetic counselling will recognise the need for a greater understanding of this group of disorders.
	www.oup.com /ca/isbn/0-19-850865-4 (624 words)

	Mitokor publishes human mitochondrial genome sequencing study - American Journal of Human Genetics
		The study analyzed mitochondrial DNA sequence variations between ethnically diverse populations providing important information concerning human molecular evolution and population genetics.
		In addition, mitochondrial sequence variation has been implicated as a causative or contributing factor in a number of human diseases,” commented Neil Howell, Ph.D Vice President of Research at MitoKor and the senior author of the paper.
		Mitochondrial dysfunction is believed to be a significant contributing factor in major diseases such as Alzheimer's and Parkinson's diseases, osteoarthritis, and type 2 diabetes mellitus.
	www.eurekalert.org /pub_releases/2002-04/nc-mph040402.php (487 words)

	eMedicine - Kearns-Sayre Syndrome : Article by Ewa Posner, MD (Site not responding. Last check: 2007-10-14)
		As a result of common involvement in mitochondrial disorders, the relative replication rates of mutant and nonmutant mtDNA may also be an important factor in the pathogenesis of mitochondrial disorders.
		Since mitochondrial disorders affect respiratory chain function, the disorders may be expected to have the greatest effect on cells or organ systems with the highest energy requirements (eg, brain, skeletal and cardiac muscle, sensory organs, kidneys).
		A deletion anywhere in the mitochondrial genome may affect transcription or translation of genes that were not affected by the deletion.
	www.emedicine.com /ped/topic2763.htm (2515 words)

	Lee-Jun C. Wong, Ph.D.
		Since the majority of the mitochondrial disorders are caused by nuclear gene defects, we have recently been developing new assays to identify nuclear gene defects that are involved in the assembly of the respiratory chain complexes or the biogenesis of mitochondria.
		A novel mutation in the mitochondrial tRNA ser(GY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.
		Detection of mitochondrial DNA mutations in the tumor and CSF of medulloblastoma patients.
	imgen.bcm.tmc.edu /molgen/facultyaz/wong.html (719 words)

	Mitochondrial genetics: a paradigm for aging and degenerative diseases? -- Wallace 256 (5057): 628 -- Science
		Studies of diseases caused by mitochondrial DNA mutations suggest that a variety of degenerative processes may be associated with defects in oxidative phosphorylation (OXPHOS).
		Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans.
		Mitochondrial DNA rearrangements of Podospora anserina are under the control of the nuclear gene grisea.
	www.sciencemag.org /cgi/content/abstract/256/5057/628 (2454 words)

	Mitochondrial - Genetics Home Reference
		In one family, a woman with a mitochondrial disorder and her unaffected husband have only affected children.
		In another family, a man with a mitochondrial condition and his unaffected wife have no affected children.
		If a genetic disorder runs in my family, what are the chances that my children will have the condition?
	ghr.nlm.nih.gov /ghr/picture/Mitochondrial (75 words)

	Genetics Introduction Message
		The fields of Clinical Genetics and Mitochondrial Disorders have seen major advances and developments in recent years.
		Although mitochondrial disorders were described only twelve years ago, we now know that mitochondria probably play important roles in ageing, neurodegenerative diseases such as Alzheimer and Parkinson, and in many childhood disorders such as MELAS, MERRF, NARP, MNGIE and Leigh disease.
		A Comprehensive Genetics Workshop will be held on the following day 19 March 2002, for those who wish to refresh or improve their knowledge about various aspects including basic genetic concepts, tools of recombinant DNA technology, patterns of inheritance, transgenic animals, gene mapping, human genome project and more.
	www.kfshrc.edu.sa /symposia/html/genetics_introduction_message.html (258 words)

	Nuclear-Mitochondrial Epistasis and Drosophila Aging: Introgression of Drosophila simulans mtDNA Modifies Longevity in ...
		is jointly encoded by mitochondrial (mtDNA) and nuclear genes,
		the mitochondrial genetics of aging should be controlled by
		Genetics, July 1, 2006; 173(3): 1465 - 1477.
	www.genetics.org /cgi/content/abstract/172/1/329 (382 words)

	Organelles Genetics Biology Science
		Using genetics in this way lets the organism tell you what is important...
		Includes information describing mitochondrial genomes, mutants, extrachromosomal plasmids, and nuclear genes involved in mitochondrial function.
		- Genome database of polymorphisms and mutations of the human mitochondrial DNA.
	www.iaswww.com /ODP/Science/Biology/Genetics/Organelles (140 words)

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