vania-janet/multiturn-rag-retrieval-data huggingface dataset:
Huntington's disease
Sir William Osler was interested in the disorder and chorea in general , and was impressed with Huntington 's paper , stating that `` In the history of medicine , there are few instances in which a disease has been more accurately , more graphically or more briefly described . '' Osler 's continued interest in HD , combined with his influence in the field of medicine , helped to rapidly spread awareness and knowledge of the disorder throughout the medical community . Great interest was shown by scientists in Europe , including Louis Théophile Joseph Landouzy , Désiré - Magloire Bourneville , Camillo Golgi , and Joseph Jules Dejerine , and until the end of the century , much of the research into HD was European in origin . By the end of the 19th century , research and reports on HD had been published in many countries and the disease was recognized as a worldwide condition .
Huntington's disease
The length of the trinucleotide repeat accounts for 60 % of the variation in the age symptoms appear and the rate they progress . A longer repeat results in an earlier age of onset and a faster progression of symptoms . Individuals with more than sixty repeats often develop the disease before age 20 , while those with fewer than 40 repeats may not ever develop noticeable symptoms . The remaining variation is due to environmental factors and other genes that influence the mechanism of the disease .
Huntington's disease
Huntington 's disease Synonyms Huntington 's chorea An edited microscopic image of medium spiny neurons ( yellow ) with nuclear inclusions ( orange ) , which occur as part of the disease process , image width 360 μm Specialty Neurology Symptoms Problems with mood , mental abilities , coordination , jerky body movements Complications Pneumonia , heart disease , physical injury from falls , suicide Usual onset 30 -- 50 years old Duration Long term Causes Genetic ( inherited or new mutation ) Diagnostic method Genetic testing Differential diagnosis Sydenham 's chorea , benign hereditary chorea , lupus , paraneoplastic syndrome , Wilson 's disease Treatment Supportive care Medication Tetrabenazine Prognosis 15 -- 20 years from diagnosis Frequency 4 -- 15 in 100,000 ( European descent )
Huntington's disease
The huntingtin protein interacts with over 100 other proteins , and appears to have multiple biological functions . The behavior of this mutated protein is not completely understood , but it is toxic to certain cell types , particularly in the brain . Early damage is most evident in the striatum , but as the disease progresses , other areas of the brain are also more conspicuously affected . Early symptoms are attributable to functions of the striatum and its cortical connections -- namely control over movement , mood and higher cognitive function . DNA methylation also appears to be changed in HD .
Huntington's disease
Classification of the trinucleotide repeat , and resulting disease status , depends on the number of CAG repeats Repeat count Classification Disease status Risk to offspring < 26 Normal Will not be affected None 27 -- 35 Intermediate Will not be affected Elevated but < < 50 % 36 -- 39 Reduced Penetrance May or may not be affected 50 % 40 + Full Penetrance Will be affected 50 %
Huntington's disease
The basal ganglia -- the part of the brain most prominently affected in early HD -- play a key role in movement and behavior control . Their functions are not fully understood , but current theories propose that they are part of the cognitive executive system and the motor circuit . The basal ganglia ordinarily inhibit a large number of circuits that generate specific movements . To initiate a particular movement , the cerebral cortex sends a signal to the basal ganglia that causes the inhibition to be released . Damage to the basal ganglia can cause the release or reinstatement of the inhibitions to be erratic and uncontrolled , which results in an awkward start to motion or motions to be unintentionally initiated , or a motion to be halted before , or beyond , its intended completion . The accumulating damage to this area causes the characteristic erratic movements associated with HD . The spontaneous and erratic physical movements associated with HD are classified as a type of hyperkinetic dysarthria . Because of the basal ganglia 's inability to inhibit movements , individuals affected by it will inevitably experience a reduced ability to produce speech and swallow foods and liquids ( dysphagia ) .
Mitochondrion
In other diseases , defects in nuclear genes lead to dysfunction of mitochondrial proteins . This is the case in Friedreich 's ataxia , hereditary spastic paraplegia , and Wilson 's disease . These diseases are inherited in a dominance relationship , as applies to most other genetic diseases . A variety of disorders can be caused by nuclear mutations of oxidative phosphorylation enzymes , such as coenzyme Q10 deficiency and Barth syndrome . Environmental influences may interact with hereditary predispositions and cause mitochondrial disease . For example , there may be a link between pesticide exposure and the later onset of Parkinson 's disease . Other pathologies with etiology involving mitochondrial dysfunction include schizophrenia , bipolar disorder , dementia , Alzheimer 's disease , Parkinson 's disease , epilepsy , stroke , cardiovascular disease , chronic fatigue syndrome , retinitis pigmentosa , and diabetes mellitus .
Huntington's disease
Reported rates of behavioral symptoms in Huntington 's disease Irritability 38 -- 73 % Apathy 34 -- 76 % Anxiety 34 -- 61 % Depressed mood 33 -- 69 % Obsessive and compulsive 10 -- 52 % Psychotic 3 -- 11 %
Huntington's disease
Compounds that have failed to prevent or slow progression of Huntington 's disease in human trials include remacemide , coenzyme Q10 , riluzole , creatine , minocycline , ethyl - EPA , phenylbutyrate and dimebon .
Huntington's disease
Since then , support and research organizations have formed in many countries around the world and have helped to increase public awareness of HD . A number of these collaborate in umbrella organizations , like the International Huntington Association and the European HD network . Many support organizations hold an annual HD awareness event , some of which have been endorsed by their respective governments . For example , 6 June is designated `` National Huntington 's Disease Awareness Day '' by the US Senate .
Neuron
Charcot -- Marie -- Tooth disease ( CMT ) is a heterogeneous inherited disorder of nerves ( neuropathy ) that is characterized by loss of muscle tissue and touch sensation , predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease . Presently incurable , this disease is one of the most common inherited neurological disorders , with 37 in 100,000 affected .
Cell-free fetal DNA
In studies of the genetics of Huntington 's chorea using qRT - PCR of cffDNA from maternal plasma samples , CAG repeats have been detected at normal levels ( 17 , 20 and 24 ) .
Huntington's disease
It is also possible to obtain a prenatal diagnosis for an embryo or fetus in the womb , using fetal genetic material acquired through chorionic villus sampling . An amniocentesis can be performed if the pregnancy is further along , within 14 -- 18 weeks . This procedure looks at the amniotic fluid surrounding the baby for indicators of the HD mutation . This , too , can be paired with exclusion testing to avoid disclosure of parental genotype . Prenatal testing can be done when a parent has been diagnosed with HD , when they have had genetic testing showing the expansion of the HTT gene , or when they have a 50 % chance of inheriting the disease . The parents can be counseled on their options , which include termination of pregnancy , and on the difficulties of a child with the identified gene .
Huntington's disease
In the same time frame , key discoveries concerning the mechanisms of the disorder were being made , including the findings by Anita Harding 's research group on the effects of the gene 's length .
Cell-free fetal DNA
Autosomal dominant and recessive single gene disorders which have been diagnosed prenatally by analysing paternally inherited DNA include cystic fibrosis , beta thalassemia , sickle cell anemia , spinal muscular atrophy , and myotonic dystrophy . Prenatal diagnosis of single gene disorders which are due to an autosomal recessive mutation , a maternally inherited autosomal dominant mutation or large sequence mutations that include duplication , expansion or insertion of DNA sequences is more difficult .
Huntington's disease
At roughly the same time as the HDF formed , Marjorie Guthrie helped to found the Committee to Combat Huntington 's Disease ( now the Huntington 's Disease Society of America ) , after her husband Woody Guthrie died from complications of HD .
Huntington's disease
An additional theory that explains another way cell function may be disrupted by HD proposes that damage to mitochondria in striatal cells ( numerous accounts of mitochondrial metabolism deficiency have been found ) and the interactions of the altered huntingtin protein with numerous proteins in neurons leads to an increased vulnerability of glutamine , which , in large amounts , has been found to be an excitotoxin . Excitotoxins may cause damage to numerous cellular structures . Although glutamine is not found in excessively high amounts , it has been postulated that because of the increased vulnerability , even normal amounts glutamine can cause excitotoxins to be expressed .
Huntington's disease
CREB - binding protein ( CBP ) , a transcriptional coregulator , is essential for cell function because as a coactivator at a significant number of promoters , it activates the transcription of genes for survival pathways . Furthermore , the amino acids that form CBP include a strip of 18 glutamines . Thus , the glutamines on CBP interact directly with the increased numbers of glutamine on the HTT chain and CBP gets pulled away from its typical location next to the nucleus . Specifically , CBP contains an acetyltransferase domain to which HTT binds through its polyglutamine - containing domain . Autopsied brains of those who had Huntington 's disease also have been found to have incredibly reduced amounts of CBP . In addition , when CBP is overexpressed , polyglutamine - induced death is diminished , further demonstrating that CBP plays an important role in Huntington 's disease and neurons in general .
Huntington's disease
Weight loss and eating difficulties due to dysphagia and other muscle discoordination are common , making nutrition management increasingly important as the disease advances . Thickening agents can be added to liquids as thicker fluids are easier and safer to swallow . Reminding the affected person to eat slowly and to take smaller pieces of food into the mouth may also be of use to prevent choking . If eating becomes too hazardous or uncomfortable , the option of using a percutaneous endoscopic gastrostomy is available . This is a feeding tube , permanently attached through the abdomen into the stomach , which reduces the risk of aspirating food and provides better nutritional management . Assessment and management by speech - language pathologists with experience in Huntington 's disease is recommended .
Huntington's disease
In addition , in at - risk pregnancies due to an affected male partner , non-invasive prenatal diagnosis can be performed by analyzing cell - free fetal DNA in a blood sample taken from the mother ( via venipuncture ) between six and twelve weeks of pregnancy . It has no procedure - related risk of miscarriage ( excepting via needle contamination ) .
Working memory
Huntington 's disease : A group of researchers hosted a study that researched the function and connectivity of working memory over a 30 - month longitudinal experiment . It found that there were certain places in the brain where most connectivity was decreased in pre-Huntington diseased patients , in comparison to the control group that remained consistently functional .
Gene
The existence of discrete inheritable units was first suggested by Gregor Mendel ( 1822 -- 1884 ) . From 1857 to 1864 , in Brno ( Czech Republic ) , he studied inheritance patterns in 8000 common edible pea plants , tracking distinct traits from parent to offspring . He described these mathematically as 2 combinations where n is the number of differing characteristics in the original peas . Although he did not use the term gene , he explained his results in terms of discrete inherited units that give rise to observable physical characteristics . This description prefigured Wilhelm Johannsen 's distinction between genotype ( the genetic material of an organism ) and phenotype ( the visible traits of that organism ) . Mendel was also the first to demonstrate independent assortment , the distinction between dominant and recessive traits , the distinction between a heterozygote and homozygote , and the phenomenon of discontinuous inheritance .
Retina
There are many inherited and acquired diseases or disorders that may affect the retina . Some of them include :
Eating disorder
Numerous studies show a possible genetic predisposition toward eating disorders as a result of Mendelian inheritance . Twin studies have found a slight instances of genetic variance when considering the different criterion of both anorexia nervosa and bulimia nervosa as endophenotypes contributing to the disorders as a whole . A genetic link has been found on chromosome 1 in multiple family members of an individual with anorexia nervosa . An individual who is a first degree relative of someone who has had or currently has an eating disorder is seven to twelve times more likely to have an eating disorder themselves . Twin studies also show that at least a portion of the vulnerability to develop eating disorders can be inherited , and there is evidence to show that there is a genetic locus that shows susceptibility for developing anorexia nervosa . About 60 % of eating disorder cases are attributable to biological and genetic components . Other cases are due to external reasons or developmental problems . There are also other neurobiological factors at play tied to emotional reactivity and impulsivity that could lead to binging and purging behaviors .
Nation state
Sandra Joireman suggests that Huntington may be characterised as a neo-primordialist , as , while he sees people as having strong ties to their ethnicity , he does not believe that these ties have always existed .
Human brain
Neurodegenerative diseases result in progressive damage to different parts of the brain 's function , and progressively worsen with age . Common examples include dementia such as Alzheimer 's disease , alcoholic dementia or vascular dementia ; Parkinson 's disease ; and other rarer infectious , genetic , or metabolic causes such as Huntington 's disease , motor neuron diseases , HIV dementia , syphilis - related dementia and Wilson 's disease . Neurodegenerative diseases can affect different parts of the brain , and can affect movement , memory , and cognition .
Neuroanatomy of memory
Damage to the basal ganglia has been linked to dysfunctional learning of motor and perceptual - motor skills . Most disorders that are associated with damage to these areas of the brain involve some type of motor dysfunction , as well as trouble with mental switching between tasks in working memory . Such symptoms are often present in those who suffer from dystonia , athymhormic syndrome , Fahr 's syndrome , Huntington 's disease or Parkinson 's disease . Huntington 's and Parkinson 's disease involve both motor deficits and cognitive impairment .
Cell-free fetal DNA
For example , the autosomal dominant condition , achondroplasia is caused by the FGFR3 gene point mutation . In 2007 , a study of two pregnancies with a fetus with achondroplasia found a paternally inherited G1138A mutation from cffDNA from a maternal plasma sample in one and a G1138A de novo mutation from the other .
Original sin
The doctrine of `` inherited sin '' is not found in most of mainstream Judaism . Although some in Orthodox Judaism place blame on Adam for overall corruption of the world , and though there were some Jewish teachers in Babylon who believed that mortality was a punishment brought upon humanity on account of Adam 's sin , that is not the dominant view in most of Judaism today . Modern Judaism generally teaches that humans are born sin - free and untainted , and choose to sin later and bring suffering to themselves .
Framingham Heart Study
Inheritance patterns in families , heritability and genetic correlations , molecular markers , and associations have been studied . The association studies include traditional genetic association studies , i.e. , looking for associations of cardiovascular risk with gene polymorphisms ( single - nucleotide polymorphisms , SNPs ) in candidate genes , and genome wide association studies ( GWAS ) . For example , one genome wide study , called the 100 K Study , included almost 1400 participants of the Framingham Heart Study ( from the original cohort , and the offspring cohort ) , and revealed a genetic variant associated with obesity . The researchers were able to replicate this particular result in four other populations . Further , the SHARe Study ( SNP Health Association Resource Study ) uncovered new candidate genes , and confirmed already known candidate genes ( for homocysteine and vitamin B12 levels ) in participants of the Framingham Heart Study .
Fingerprint
Scientists have found that family members often share the same general fingerprint patterns , leading to the belief that these patterns are inherited .
Collagen
Alport syndrome -- Can be passed on genetically , usually as X-linked dominant , but also as both an autosomal dominant and autosomal recessive disorder , sufferers have problems with their kidneys and eyes , loss of hearing can also develop in during the childhood or adolescent years .
Gene
Mendel 's work went largely unnoticed after its first publication in 1866 , but was rediscovered in the late 19th century by Hugo de Vries , Carl Correns , and Erich von Tschermak , who ( claimed to have ) reached similar conclusions in their own research . Specifically , in 1889 , Hugo de Vries published his book Intracellular Pangenesis , in which he postulated that different characters have individual hereditary carriers and that inheritance of specific traits in organisms comes in particles . De Vries called these units `` pangenes '' ( Pangens in German ) , after Darwin 's 1868 pangenesis theory .
Mitochondrion
An individual 's mitochondrial genes are not inherited by the same mechanism as nuclear genes . Typically , the mitochondria are inherited from one parent only . In humans , when an egg cell is fertilized by a sperm , the egg nucleus and sperm nucleus each contribute equally to the genetic makeup of the zygote nucleus . In contrast , the mitochondria , and therefore the mitochondrial DNA , usually come from the egg only . The sperm 's mitochondria enter the egg , but do not contribute genetic information to the embryo . Instead , paternal mitochondria are marked with ubiquitin to select them for later destruction inside the embryo . The egg cell contains relatively few mitochondria , but it is these mitochondria that survive and divide to populate the cells of the adult organism . Mitochondria are , therefore , in most cases inherited only from mothers , a pattern known as maternal inheritance . This mode is seen in most organisms , including the majority of animals . However , mitochondria in some species can sometimes be inherited paternally . This is the norm among certain coniferous plants , although not in pine trees and yews . For Mytilids , paternal inheritance only occurs within males of the species . It has been suggested that it occurs at a very low level in humans . There is a recent suggestion that mitochondria that shorten male lifespan stay in the system because they are inherited only through the mother . By contrast , natural selection weeds out mitochondria that reduce female survival as such mitochondria are less likely to be passed on to the next generation . Therefore , it is suggested that human females and female animals tend to live longer than males . The authors claim that this is a partial explanation .
Telangiectasia
Goldman states that `` numerous inherited or congenital conditions display cutaneous telangiectasia '' . These include :
Non-communicable disease
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people . The origin of these genetic errors can be :
Guinea pig
Similar to the inherited genetic diseases of other breeds of animal ( such as hip dysplasia in canines ) , a number of genetic abnormalities of guinea pigs have been reported . Most commonly , the roan coloration of Abyssinian guinea pigs is associated with congenital eye disorders and problems with the digestive system . Other genetic disorders include `` waltzing disease '' ( deafness coupled with a tendency to run in circles ) , palsy , and tremor conditions .
Original sin
Though believing in the concept of inherited sin from Adam , there is no dogmatic Adventist position on original sin . Related articles dealing with the subject are publicly available on the General Conference of the Seventh - day Adventist Church 's official website on theological doctrine , the Biblical Research Institute .
Brave New World
The biological techniques used to control the populace in Brave New World do not include genetic engineering ; Huxley wrote the book before the structure of DNA was known . However , Gregor Mendel 's work with inheritance patterns in peas had been rediscovered in 1900 and the eugenics movement , based on artificial selection , was well established . Huxley 's family included a number of prominent biologists including Thomas Huxley , half - brother and Nobel Laureate Andrew Huxley , and his brother Julian Huxley who was a biologist and involved in the eugenics movement . Nonetheless , Huxley emphasises conditioning over breeding ( nurture versus nature ) ; human embryos and fetuses are conditioned through a carefully designed regimen of chemical ( such as exposure to hormones and toxins ) , thermal ( exposure to intense heat or cold , as one 's future career would dictate ) , and other environmental stimuli , although there is an element of selective breeding as well .
Human skin color
Some types of albinism affect only the skin and hair , while other types affect the skin , hair and eyes , and in rare cases only the eyes . All of them are caused by different genetic mutations . Albinism is a recessively inherited trait in humans where both pigmented parents may be carriers of the gene and pass it down to their children . Each child has a 25 % chance of being albino and a 75 % chance of having normally pigmented skin . One common type of albinism is oculocutaneous albinism or OCA , which has many subtypes caused by different genetic mutations . Albinism is a serious problem in areas of high sunlight intensity , leading to extreme sun sensitivity , skin cancer , and eye damage .
Original sin
The concept of inherited sin does not exist in Islam . Islam teaches that Adam and Eve sinned , but then sought forgiveness and thus were forgiven by God .
Cousin marriage
Children of first - cousin marriages may have an increased risk of genetic disorders , particularly if their parents both carry a harmful recessive mutation , but this can only be estimated empirically , and those estimates are likely to be specific to particular populations in specific environments . Children of more distantly related cousins have less risk of genetic disorders . In fact , a study of Icelandic records indicated that marriages between third or fourth cousins ( people with common great - great - or great - great - great - grandparents ) may produce the most children and grandchildren .