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| | Chorea.doc |
 | | Although there is currently no cure for the disease, many techniques have been developed to detect the gene mutation and therefore, one can know if they carry the disease or not, prior to the expression of the phenotype. | | | The cause of the disease is in a gene mutation. | | | The cause of this disease is in one gene mutation. |
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http://education.uncc.edu/cmste/papers/Chorea.doc
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| | meme: Definition and Much More From Answers.com |
| | Memes supposedly have, as their fundamental property, evolution via natural selection in a way very similar to Charles Darwin's ideas concerning biological evolution, on the premise that replication, mutation, survival and competition influence them. | | | The original meme of Kellermann and his work on gun-related violent injury has generated a new meme, "Dr. Kellerman is a evil lying gun-grabbing enemy of freedom," by the classic genetic phenomenon of a deletion mutation. | | | Memes propagate by imitation, direct or indirect, of one individual by another, and thus depend on brains sufficiently powerful to assess the key aspects of the imitated behavior (what to copy and why) as well as its potential benefits. |
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http://www.answers.com/topic/meme
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| | RT Article |
| | The new organization’s mission is to raise funds for research, create awareness of the disease among researchers and the public, and build support networks of those afflicted with SBMA and their families. | | | Fischbeck says that Kennedy’s disease is becoming less obscure to researchers and physicians. | | | It’s an interesting finding because it puts Kennedy’s disease together with other diseases that have the same kind of mutation, probably the most famous of which is Huntington’s disease, so it’s the same kind of mechanism, mutation; they’re both diseases where there’s degeneration of nerve cells in the brain. |
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http://www.rtmagazine.com/Articles.ASP?articleid=R0112D03
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| | Human Prion Point Mutations |
| | The similarity of the clinical courses of the patient homozygous for this mutation and the patients heterozygous for it argues that familial Creutzfeldt-Jakob disease is a true dominant disorder. | | | But here is more: Jakob's original slide preparations still exist, and of the 5 cases originally presented by Jakob in his first 4 papers, Katscher points out that present analysis indicates that only 2 of these cases are what we currently understand as Creutzfeld-Jakob disease." | | | Hsiao observed in N Engl J Med 1991 Apr 18;324(16):1091-7 that "one patient was homozygous for the lysine mutation [E200K], and her clinical course did not differ from that of the patients heterozygous for the mutation.... |
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http://www.mad-cow.org/prion_point_mutations.html
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| | United Mitochondrial Disease Foundation - Medical Article List by Subject |
| | Kitaoka ; H ; 3635 ; A patient with diabetes mellitus, cardiomyopathy, and a mitochondrial gene mutation: confirmation of a gene mutation in cardiac muscle. | | | Malcic ; I ; 1795 ; Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. | | | Van Hove ; JL ; 647* ; Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder. |
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http://biochemgen.ucsd.edu/umdf/mito-cardio.htm
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| | The NTSAD Diseases Family: Canavan Disease |
| | In situations where a non-Ashkenazi individual has a family history of Canavan Disease, it may be possible to identify the mutation in that family and use the information for prenatal diagnosis. | | | One of the earliest signs of Canavan Disease recognized by many parents is overall low muscle tone and lack of head control. | | | As was done earlier for Tay-Sachs Disease, it is important that population-based screening for CD be coupled with thorough education and genetic counseling services so that test results are interpreted correctly. |
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http://www.ntsad.org/pages/canavan.htm
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| | Novel Gene Mutation Causes Huntington's-Like Symptoms, Providing Window Into How Brain Cells Die |
| | "This is a rare version of an already rare disorder, but the mutation that causes it may not only help us better understand Huntington's Disease, but could boost our understanding of many other neurodegenerative disorders because we can now compare two different pathways leading to similar patterns of brain disease." | | | The new mutation is in a gene called junctophilin-3 on chromosome 16, and the disorder it causes is called Huntington's Disease-like 2 (HDL2). | | | The mutation that causes most Huntington's Disease cases is called huntingtin, and is found on chromosome 4, according to Margolis. |
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http://www.hopkinsmedicine.org/press/2002/October/021018.htm
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| | PLP1-Related Disorders |
| | Alexander disease is an autosomal recessive disease caused by mutations in the gene encoding glial fibrillary acidic protein. | | | Sons of female carriers have a 50% risk of inheriting the mutation and having the disease and daughters have a 50% risk of being carriers. | | | Males with the PMD phenotype do not reproduce, but males with the SPG2 phenotype may. All of their daughters will be carriers and none of their sons will inherit the mutation. |
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http://www.geneclinics.org/profiles/pmd/details.html
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| | Recognizing mitochondrial disease : Epilepsy.com |
| | It would seem reasonable to assume that if the mothers mitochondrial DNA has a particular disease-causing mutation, then all mitochondria would have the same mutation and the disease associated with this mutation would be relatively similar from patient to patient. | | | For instance, patients with the disease syndrome called MELAS (mitochondrial myopathy, progressive encephalopathy, lactic acidosis, and stroke-like episodes) usually have a particular mitochondrial DNA mutation, but some have dysfunction of the mitochondria's energy-producing mechanism (electron transport chain complexes) instead. | | | The degree of mitochondrial dysfunction, the organs involved, and environmental conditions (for instance, whether the person has another chronic illness) will determine the severity of the disease. |
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http://www.epilepsy.com/epilepsy/recognizing_mitochondrial_disease.html
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| | Sheffield University VWF Homepage |
| | New mutations in the exon 28 of VWF gene detected in patients with different types of von Willebrand disease. | | | Kroner, P.A., Fahs, S.A., Vokac, E.A., Friedman, K.D., Montgomery, R.R., Novel missense mutations in von Willebrand factor (vWF) associated with defective vWF/Factor VIII interaction in a patient with Type I von Willebrand disease. | | | Gaucher, C., Parquet, A., Baillod, M., Hanss, C., Mazurier, C., Mutations localized in the D3 domain of von Willebrand factor are identified in patients classified in type 1 or 2A von Willebrand disease. |
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http://www.shef.ac.uk/vwf/mutations/mutreferences.html
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| | Genetic Diseases: How informed are you? |
| | As with many other diseases and medical conditions, prevention is the best cure. | | | Individuals who may carry a gene for one of these recessive genetic diseases, as well as several others, can partake in a simple blood test that will identify what, if any, genetic mutations may be present in his or her DNA. | | | He or she is simply at risk for having offspring with the disease if he or she has children with another carrier. |
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http://www.generationj.com/archive/health/genetic.html
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| | Facts: About Genes and Alzheimer's Disease |
| | In familial Alzheimer's disease, a person has inherited an abnormal variation, or mutation, in one of three genes that are known causes of the disease: PS1, PS2, and APP. | | | With regard to late-onset sporadic Alzheimer's disease, consensus statements by professional groups—medical, genetic, and others—agree that APOE testing is not appropriate for individuals with no symptoms of dementia. | | | Members of the family who do not inherit the mutation are no more likely to get the disease than are other members of the general population. |
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http://www.alzmass.org/factsheets/GeneticsFacts_12-04-03.htm
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| | Interview with Colin Lowry: Don't Underestimate This Public Health Enemy: `Prion Pathology' |
| | This is a genetically inheritable disease, and this mutation is a mutation of the prion precursor protein itself. | | | One of the unfortunate transmissions of the variant Creutzfeldt-Jacob Disease (vCJD) occurred in France, the result of instruments that had been sterilized in the standard way, which did not do anything to defeat the infectivity of the prions; the prions bound tightly to the stainless steel. | | | So the problem then is, that in about 1994, I think, they first recognized, they were seeing a variant Creutzfeldt-Jacob Disease in humans. |
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http://www.larouchepub.com/other/interviews/2004/3111colin_lowry.html
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| | Human Prion Point Mutations |
| | The similarity of the clinical courses of the patient homozygous for this mutation and the patients heterozygous for it argues that familial Creutzfeldt-Jakob disease is a true dominant disorder. | | | Hsiao observed in N Engl J Med 1991 Apr 18;324(16):1091-7 that "one patient was homozygous for the lysine mutation [E200K], and her clinical course did not differ from that of the patients heterozygous for the mutation.... | | | Non-uniform susceptibility to mutation across the gene, due to some physical structure limiting accessibility to mutation, cannot be dismissed out of hand. |
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http://www.mad-cow.org/~tom/prion_point_mutations.html
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| | occlusive pulmonary vascular disease |
| | ...flow response of the pulmonary circulation in patients with heart failure and pulmonary vascular disease... | | | Pulmonary Veno- occlusive Disease Caused by an Inherited Mutation in... | | | Pulmonary Veno- occlusive Disease Caused by an Inherited Mutation in |
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http://www.1-for-docs.com/40/occlusive-pulmonary-vascular-disease.html
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| | Kennedy Disease |
| | Kennedy disease is caused by a mutation in the androgen receptor (AR) gene. | | | Kennedy Disease is a rare, slowly progressive muscular disorder that affects males only and is inherited as an X-linked genetic trait. | | | It generally affects both the upper and lower body and results in the progressive wasting and weakening of those muscles that have lost their nerve supply. |
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http://hw.healthdialog.com/kbase/nord/nord986.htm
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| | Sickle Cell Disease - Children's Hospital of Philadelphia |
| | Sickle cell is an inherited disease caused by a genetic mutation. | | | For a child to have a form of sickle cell disease, he or she must inherit at least one sickle gene from one parent and either a sickle gene or another abnormal hemoglobin gene from the other parent. | | | Sickle cell disease is a group of inherited blood disorders in which the main hemoglobin (a protein in red blood cells that carries oxygen to the tissues of the body) is defective. |
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http://www.chop.edu/consumer/your_child/condition_section_index.jsp?id=-8808
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| | Health:Category Top/Health/Conditions and Diseases/Genetic Disorders/Sturge-Weber Syndrome |
| | Tay-Sachs disease, see also Dor Yeshorim).A genetic counselor is a health professional with specialized graduate degrees and experience in the areas of medical genetics and counseling. | | | Mutation can affect human health, causing disease by disrupting a cell's normal biological functions.Changes in the DNA caused by mutation can cause errors in protein sequence, createing pratially or non-functional proteins. | | | The scope and sciences underpinning human medicine overlap many other fields. |
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http://www.poneweb.com/Category551850.html
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| | GeneDis Tay-Sachs Mutations Web Site |
| | The mutation tables show the location of the mutation on the cDNA, genomic DNA and protein sequence, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described. | | | Tay-Sachs disease is a autosomal recessive, progressive neurodegenerative disorder, caused due to mutations in the HexA gene. | | | Bioinformatics Unit, G.S. Wise Faculty of Life Sciences, Tel Aviv University, Israel. |
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http://life2.tau.ac.il/GeneDis/Tables/Tay_Sachs/tay_sachs.html
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| | Ask an Expert: KRABBES DISEASE AND INTER-RACIAL BABIES |
| | The disease is a multiple mutation type of disease and over 60 separate mutations are known. | | | Alterations in body tone with rigidity and opisthotonos and visual inattentiveness owing to optic atrophy become apparent as the disease progresses. | | | During the later stages of the illness, blindness, deafness, absent deep tendon reflexes, and decerebrate rigidity constitute the major physical findings.` Virtually all children die before the age of 2, although there is a late onset form of the disease. |
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http://www.netwellness.org/question.cfm/26577.htm
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| | Lab Findings in Nutrition and Metabolic Disease |
| | The word 'pseudogout' actually means 'fake' or 'imitation gout.' Like the disease gout, pseudogout can come on as sudden, recurrent attacks of pain and swelling in a single joint. | | | Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate. | | | Wilson's disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver. |
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http://www.hoslink.com/LabResults/Nutrition_Metabolic.htm
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| | DermatologyTimes - Sensing 'Sixth' disease |
| | * They should seek to perform skin biopsies whenever possible and permitted by parents to look for evidence of a viral pattern in the disease. | | | * The condition does not react to existing tests for Fifth disease, and shows no clinical evidence of the condition. | | | The disease presents with a rash on the face, arms, legs, and body. |
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http://www.dermatologytimes.com/dermatologytimes/article/articleDetail.jsp?id=12509
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| | Rare Pediatric Disease Database |
| | Menkes disease is caused by a mutation in a gene (ATP7A) that is responsible for transporting copper in and out of cells. | | | Rarely, children with Menkes disease may have a milder form in which the neurological symptoms and mental retardation are less severe and the disease occurs later in childhood. | | | Menkes disease presents in male infants, 2-3 months of age, who are noted to have regression of developmental milestones, failure to thrive, seizures, hypotonia (low muscle tone), and mental retardation. |
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http://www.madisonsfoundation.org/content/3/1/display.asp?did=78
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| | Machado Joseph Disease - Information and Support Resources |
| | The foundation provides information about the disease, supports and conducts clinical research, and helps patients find medical, social, and genetic counseling services. | | | For additional information concerning Joseph disease research supported by the National Institute of Neurological and Communicative Disorders and Stroke, contact: | | | Taking into account the family names and traditional professions, physical phenotype, and places of residence of the affected families in mainland Portugal and of the Bastiana (Joseph) family, it is suggested that the original MJD mutation may have arisen among the settlements of Sephardic Jews in northeastern Portugal. |
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http://www.mazornet.com/genetics/machado.asp
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| | The Hindu : A novel gene mutation triggering pancreatitis |
| | The Asian Institute of Gastroenterology and the Centre for Cellular and Molecular Biology (CCMB) on Saturday announced the discovery of a new gene mutation, SPINK 1, associated with chronic tropical pancreatitis, a disease predominant in the South. | | | Now that the gene has been identified it would be possible to screen patients with different types of pancreatitis and treat them at early stages with medicine and endoscope so that the course of the disease could be modified and arrested, Dr.Reddy and Dr. Chandak explained. | | | "For the first time probably, a novel gene mutation has been found as a cause of gastrointestinal disease in our country". |
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http://www.hinduonnet.com/thehindu/2003/06/01/stories/2003060100651100.htm
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| | Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. |
| | Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. | | | This mutation is identical to that originally found in a Canadian patient with juvenile Sandhoff disease. | | | Hydrolysis of [3H]globoside I in the intact fibroblasts was apparently disturbed but the rate of hydrolysis was higher than those seen in cells from patients with infantile Sandhoff disease. |
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http://www.arclab.org/medlineupdates/abstract_2147031.html
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| | Pelizaeus-Merzbacher disease definition - Medical Dictionary definitions of popular medical terms |
| | The disease is clinically characterized by nystagmus (rhythmical oscillation of the eyes), impaired motor development, tremor, progressive spasticity (increased muscle tone), ataxia (wobbliness), choreoathetotic movements, and dysartria (difficulty speaking). | | | The disease is named for the German neurologist Friedrich Pelizaeus (1850-1917) and psychiatrist Ludwig Merzbacher (1875-1942) who independently described the disorder in 1885 and 1909, respectively. | | | The disease describes an X-linked pattern of inheritance with boys who have the mutation affected with the disease while females with the mutation are carriers. |
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http://www.medterms.com/script/main/art.asp?articlekey=13724
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| | Huntington's chorea (from human disease) -- Encyclopædia Britannica |
| | New York-based institute for the treatment and study of this fatal hereditary disease. | | | Huntington disease is caused by a genetic mutation that causes degeneration of neurons in the basal ganglia, a pair of nerve clusters deep within the brain, that control movement. | | | Maintenance of the integrity of skin and mucosal linings |
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http://www.britannica.com/eb/article-63269
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