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Topic: Mitochondrial disorder

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	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.
		As a general rule, mitochondrial diseases are worst when the defective mitochondria are present in the muscles or nerves, because these are the most energy-hungry cells of the body.
	en.wikipedia.org /wiki/Mitochondrial_disease (668 words)

	Encyclopedia: Mitochondrial DNA
		Mitochondrial DNA (mtDNA, or less popularly, mDNA) is DNA which is not located in the nucleus of the cell but in the mitochondria.
		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.nationmaster.com /encyclopedia/Mitochondrial-DNA (2434 words)

	Re: Mitochondrial Disorder
		We have an expanding population of mitochondrial disorders that we manage.
		You must know that treating mitochondrial disorders is still in its infancy.
		There are several places that treat mitochondrial disorders.
	www.medhelp.org /perl6/neuro/archive/11185.html (803 words)

	Mitochondrial Disease (Site not responding. Last check: 2007-10-10)
		Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas.
		Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.
		It is important to determine which type of mitochondrial disease inheritance is present, in order to predict the risk of recurrence for future children.
	www.clevelandclinic.org /health/health-info/docs/1600/1678.asp?index=6957 (1285 words)

	Sokol: J Pediatr, Volume 128(5).May 1996.pp 597-599. (Site not responding. Last check: 2007-10-10)
		Acquired abnormalities of mitochondrial respiration may also occur in the presence of specific toxins and drugs (e.g., fluoroiodoarabinouracil), (16) in metal accumulation (e.g., Wilson disease), (17) in Reye syndrome, (18) and possibly in a number of other disease states (e.g., alcoholic liver disease and chronic cholestasis).
		Current "mitochondrial resuscitation" therapy in patients with liver failure is imperfect; however, recognition of genetic defects has important implications for other family members, who either may have the mutations themselves but at a lower heteroplasmic ratio, with development of neuromuscular symptoms later in life, or may need genetic counseling before their childbearing years.
		Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.
	cloud.prohosting.com /lzambeni/prions/mitochondrialdisorders.htm (2081 words)

	Homozygous
		A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair.
		In chromosomal disorders, the defect is due not to a single gene, but to an excess or deficiency of the genes contained in a whole chromosome or chromosome segment.
		A person with a mitochondrial disorder may exhibit maternal inheritance (only individuals related by a maternal relative are at risk).
	www.dental.am /more/12453_0_14_200_M225 (2271 words)

	Mitochondrial Myopathy (MITO) \| MDA Ask the Experts (Site not responding. Last check: 2007-10-10)
		Mitochondrial myopathy, encephalomyopathy with lactic acidosis and stroke-like episodes -- MELAS -- is a disorder that affects the function of the mitochondria within cells.
		Mitochondrial disease can be diagnosed if the mitochondria look abnormal on an electron microscope picture of a muscle biopsy, or abnormally low activity of a mitochondria enzyme is measured on a fresh muscle specimen.
		The precipitating role of vaccinations in children with a pre- existing mitochondrial disease is probably due to the mild infection and immune response that accompany vaccinations.
	www.mdausa.org /experts/ask_mito.html (14814 words)

	MedlinePlus Medical Encyclopedia: Genetics
		Phenylketonuria (PKU) is a common genetic disorder (1 out of 12,000 births) which results from a deficient enzyme required for the metabolism of the amino acid phenylalanine.
		Sickle cell anemia is a disorder common in individuals with an African ethnic background.
		ADA deficiency is a rare immunodeficiency disorder, sometimes called the "boy in a bubble" disease, which results from the deficiency of an enzyme called adenosine deaminase.
	www.nlm.nih.gov /medlineplus/ency/article/002048.htm (2274 words)

	Mitochondrial Diseases
		Mitochondrial dysfunction is found in diseases as diverse as cancer, infertility, diabetes, heart diseases, blindness deafness, kidney disease, liver disease, stroke, migraine, and the toxicity of HIV and other drugs.
		Mitochondrial dysfunction is also involved in aging and neurodegenerative diseases such as Parkinson and Alzheimer dementia.
		Many mitochondrial diseases are so new that they have not yet been mentioned in the medical textbooks or in to the medical literature.
	www.ntfactor.com /mitoman.html (410 words)

	Medical Acupuncture Online Journal, Volume 13 #3, case 2
		A 11/2-year-old girl with a mitochondrial DNA deletion disorder and severe cyclic vomiting syndrome presented in the pediatric intensive care unit because of severe dehydration and fluid and electrolyte imbalance secondary to her cyclic vomiting.
		Mutations of mitochondrial DNA are increasingly recognized as a cause of human disease.
		Mitochondrial disease should be considered in cases of cyclic vomiting, especially those with additional pathology or possible maternal inheritance.
	www.medicalacupuncture.org /aama_marf/journal/vol13_3/case2.html (1096 words)

	Chronic fatigue syndrome - Medical Encyclopedia (Site not responding. Last check: 2007-10-10)
		Chronic fatigue syndrome, or CFS, is a debilitating and complex disorder characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity.
		The clinical course of CFS varies considerably among persons who have the disorder; the actual percentage of patients who recover is unknown, and even the definition of what should be considered recovery is subject to debate.
		One thing is certain at this juncture: there are no immune disorders in CFS patients on the scale traditionally associated with disease.
	www.nursingstudy.com /encyclopedia/Chronic_fatigue_syndrome.html (5873 words)

	Responses - Mitochondrial Disorder? (Site not responding. Last check: 2007-10-10)
		After starting a mitochondrial myopathy (MITO) cocktail four years ago consisting of carnitine, CoQ10 and riboflavin, his fatigue and muscle aches (calves) have improved, as did muscle strength.
		We have never been told exactly which mitochondrial encephalomyopathy complex deficiency he has as a diagnosis.
		All the signs that your son shows are compatible with a mitochondrial (MITO) disorder, as are the morphological findings of increased lipid in muscle, and the biochemical findings of increased citrate synthase.
	www.mdausa.org /experts/question.cfm?id=3995&disease=80 (371 words)

	Multiple presentation of mitochondrial disorders -- Nissenkorn et al. 81 (3): 209 -- Archives of Disease in Childhood
		Mitochondrial disorders, once thought to be relatively rare, are now thought to be the most prevalent metabolic disease.
		A firm diagnosis of a mitochondrial disorder was made in 31 children, based on the criteria mentioned previously (table 2).
		After the diagnosis of a mitochondrial disorder most of our patients were treated with coenzyme Q (5 mg/kg) and antioxidants.
	adc.bmjjournals.com /cgi/content/full/81/3/209 (3326 words)

	An autosomal locus predisposing to deletions of mitochondrial DNA - Nature Genetics
		The assignment of this disease locus to 10q 23.3−24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder.
		Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy.
		Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
	www.nature.com /doifinder/10.1038/ng0295-146 (735 words)

	Ask the Expert (Site not responding. Last check: 2007-10-10)
		It's also hard to know what "this kind of thing", as you put it, really is--a primary mitochondrial disorder that produces Tourette-like symptoms; or actual Tourette's Disorder, that just happens, in your daughter's case, to be associated with a mitochondrial disorder.
		One such mitochondrial disease, known as Leigh syndrome, is characterized by seizures, developmental delay, muscle weakness, respiratory abnormalities, and other problems.
		So, technically, your daughter would not be given a diagnosis of TD is it were known that her tics or respiratory problems were the direct result of a mitochondrial disorder.
	www.mhsource.com /expert/exp1012103a.html (467 words)

	Chronic Fatigue Syndrome (Site not responding. Last check: 2007-10-10)
		Other disorders with known causes and treatments that may produce CFS-like symptoms are Lyme disease, gluten intolerance (Celiac disease and related disorders), and vitamin B12 deficiency.
		It's possible that disruption of the hormonal "master control" in the hypothalamus somehow causes CFS by upsetting the body's hormone balance.
		As with mitochondrial disorder, it is believed that large amounts (eg, 2-10g/day l-carnitine) are necessary to have a significant effect, and smaller amounts of these nutrients will not generally be helpful.
	encyclopedia.mysleepcenter.com /chronic_fatigue_syndrome3.htm (5921 words)

	BrainTalk Communities - Autism a mitochondrial problem
		I understand that some of you are reluctant to try something for which you know little about, but hey, this is your child and you might have to take the unknown road for their benefit.
		Also, there was some recent research connecting bipolar with mitochondrial disorders, and bipolar is one of the conditions that is said to be found a lot in families with autism.
		Mitochondrial DNA is more vulnerable to mutations in the oxidizing environment of mitochondria; its repair mechanisms are poor compared to nuclear DNA.
	brain.hastypastry.net /forums/showthread.php?t=7498 (1723 words)

	Eric A. Schon, PhD (Site not responding. Last check: 2007-10-10)
		Mitochondrial genetics differs markedly from mendelian genetics, because first, mitochondria are inherited exclusively from the mother, and second, there are hundreds or thousands of mitochondria (and mtDNAs) per cell.
		Cytochrome c oxidase (COX), or complex IV of the mitochondrial respiratory chain, is a copper- and heme-containing metalloprotein composed of 13 subunits, 3 encoded by mitochondrial DNA (mtDNA) and 10 by nuclear DNA (nDNA).
		A number of COX-deficiency disorders are associated with point mutations in mtDNA-encoded COX subunits, but very little is known regarding the molecular basis of mendelian-inherited COX deficiency disorders, which display widely varying phenotypes, including both generalized and tissue-specific clinical presentations.
	cpmcnet.columbia.edu /dept/genetics/faculties/Schon.html (1349 words)

	Mitochondrial Disorder
		A very arrogant MS specialist also told me to stop reading about mitochondrial disorders because that is not what I had.
		As you probably know from talking to Dr Shoffner (we send the majority of mtDNA to him for analysis) that mitochondrial disorders are very difficult to diagnose.
		They have been sending her to an MS specialist and then did a complete work-up for Lupus, Lyme, etc. (Ofcourse they haven't been able to give her any of those diagnosis) She is very sick right now and I know she needs to be seen by a mitochondrial specialist as well.
	www.medhelp.org /forums/neuro/archive/11291.html (1037 words)

	Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain ...
		Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies -- Jaksch et al.
		Patients presenting with clinical features suggestive of a mitochondrial disorder and with a biochemically demonstrable RC defect in skeletal muscle were included in this study.
		indicative of a mitochondrial disorder and with biochemically
	jmg.bmjjournals.com /cgi/content/full/38/10/665 (4764 words)

	Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease -- Lin et al. 24 (1): 33 -- ...
		Images from the case of an 8-year-old female patient with complex I mitochondrial disease, which was diagnosed when the patient was older than 3 years.
		markers for mitochondrial disease in a larger cohort of 29 patients.
		Mitochondrial disorders: analysis of their clinical and imaging characteristics.
	www.ajnr.org /cgi/content/full/24/1/33 (3688 words)

	mitochondrial disorder--statin induced?
		the article further states that weakness due to myopathy (muscle disorder) is "usually the first symptom in people who develop this disorder in adulthood...cramping of large and small muscles also may occur.
		Free radicals, which damage lipid membranes such as the inner mitochondrial membrane, are overproduced in disorders of mitochondrial function and may be scavenged by antioxidants".
		Free radicals, which > damage lipid membranes such as the inner > mitochondrial membrane, are overproduced in > disorders of mitochondrial function and may > be scavenged by antioxidants".
	www.rxlist.com /rxboard/lipitor.pl?read=4118 (887 words)

	Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease -- Lin et al. 24 (1): 33 -- ...
		Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease -- Lin et al.
		inherited disorders caused by a derangement of mitochondrial
		disorder on the basis of genetic, biochemical, or pathologic
	www.ajnr.org /cgi/content/abstract/24/1/33 (553 words)

	Zidovudine-induced mitochondrial disorder with massive liver steatosis, myopathy, lactic acidosis, and mitochondrial ...
		Zidovudine-induced mitochondrial disorder with massive liver steatosis, myopathy, lactic acidosis, and mitochondrial DNA depletion.
		Zidovudine is known to be responsible for a mitochondrial myopathy with ragged-red fibres and mitochondrial DNA depletion in muscle.
		This case emphasises that zidovudine treatment can induce mitochondrial multisystem disease, as revealed in our case by myopathy, liver steatosis and lactic acidosis.
	www.aegis.com /aidsline/1999/jun/A9960584.html (496 words)

	Mitochondrial Disorders : Epilepsy.com
		Particular abnormalities in the mitochondrial genes are often associated with epileptic disorders.
		Two mitochondrial disorders are often associated with epileptic seizures:
		There are other mitochondrial disorders that do not fit clearly into the MELAS or MERRF syndromes but which can cause epilepsy and additional neurologic problems.
	www.epilepsy.com /epilepsy/epilepsy_mitochondrial.html (207 words)

	Mitochondrial Web Ring
		You will find sites containing medical and scientific information on mitochondrial disease as well as sites containing personal accounts from those dealing with a mitochondrial disorder.
		She is a living vessel of God and she has such a fighting spirit about her.
		She teaches us everyday struggles are petty in comparison to her life of fighting against the effects of the Mitochondrial Diseases on her little body.
	j.webring.com /hub?ring=mito (468 words)

	Carnitine : Meridia
		She said that in her studies she has been seeing many children with a mitochondrial disorder and that my son has many of the symptoms.
		She indicated that treatment with a natural substance called carnitine might make it possible for my son to reduce or eliminate some of his medications.
		Even though a mitochondrial disorder doesn’t seem to be a factor in my son’s disease, I thought others might benefit from this information and perhaps be tested if they show symptoms.
	www.bipolarworld.net /phelps/ph_2003/ph951.htm (1151 words)

	30997-ncpr (Site not responding. Last check: 2007-10-10)
		I have a young mother in Durban, South Africa, with a four year old son who is severely ill with a mitochondrial disorder; tentative diagnosis is either MELAS or Leigh's.
		She has been unable to locate a physician in her area that is familiar with mitochondrial disorders, and this is negatively affecting the treatment of her son's condition.
		It is my concern that if a physician with adequate knowledge and experience with mitochondrial disorders is not found for this family, that the resulting course will be the accelerated death of this child.
	hum-molgen.org /clinical/25198-ncpr7.html (141 words)

	Healthnet News Vol. XV, No. 3 Fall 1999
		Sleep disorders and disturbances of sleep comprise a broad range of problems, including sleep apnea, narcolepsy, insomnia, parasomnia, jet-lag syndrome, and disturbed biological and circadian rhythms.
		These disorders include muscular dystrophy, inflammatory myopathy, spinal muscular atrophy, or mitochondrial disorder.
		In addition to describing the history, initial and future symptoms, diagnosis, genetics, and treatment of many neuromuscular disorders, Dr. Thompson advises parents how to be effective advocates for their child and how to continue to give needed attention to other family members and to themselves.
	library.uchc.edu /departm/hnet/winter99.html (3354 words)

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