global hunt goes on for schizophrenia's hidden genes
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THE LANCET Neurology Vol 1 June 2002 http://neurology.thelancet.com 77
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Aetiological studies have not explainedseveral mysteries surroundingschizophrenia. Why do drugs thatchange neurotransmitter concentrationsimprove symptoms? Why do patientswith schizophrenia experienceperiventricular loss of subcorticaltissue? And why does a link exist withperinatal complications? DouglasLevinson (University of Pennsylvania,Philadephia, PA, USA) notes that,rather than a single hypothesis, “wehave certain research findings which wewould like any future genetic,biochemical, or anatomic theory ofschizophrenia to explain to us”.
One such finding, from aninternational collaboration led byLevinson, illustrates the mystery overschizophrenia’s genetic associations.“There are findings which suggest thatgenes in several regions could becomponents in the polygenic effectswhich make some people highlyvulnerable to developing schizophrenia”,Levinson notes. But one previous studyproduced evidence suggesting that a
gene on chromosome 1q might by itselfproduce a much stronger genetic effect.Last month, Levinson’s collaborationreported that this strong effect couldnot be confirmed (Science 2002; 296:739–41). “Our results in a large sample[779 pedigrees] suggest that if a gene onproximal 1q is in fact part of such anetwork of gene effects, by itself it doesnot increase risk by very much”, he explains.
Currently, “there are nosupportable hypotheses to suggest thatany single gene directly causesschizophrenia”, Levinson concludes,although he adds that certain genes onchromosome 22q may cause thecondition fairly directly. SolomonSnyder (Johns Hopkins Medical School,Baltimore, MD, USA) who coauthors areview with colleague Akira Sawa in thesame issue of Science, remains of theopinion that “the most important[aetiological] insights will likely comewith finding specific geneabnormalities”. He is especiallyinterested in candidate genes from
chromosome 22q and other regionsthat encode proteins mediatingneuroleptic function. Moreover, headds, “there is emerging consensus thatthe fundamental brain disorder lies in development as opposed todegeneration”. Thus, geneticaberrations in both neurodevelop-mental pathways and neurotransmittersystems may interact to causeschizophrenia in combination withenvironmental factors.
Both experts have high hopes thatthe hunt for disease-linked genes will besuccessful, perhaps within a decade.Levinson indicates the importance ofcontinuing to “look for patterns ofresults across studies and in increasinglylarger studies and to use increasinglysophisticated technologies to hunt forevidence of genetic effects in candidateregions in the largest possible samples”.Ultimately, international collection andpooling of DNA samples could be key toextricate the complex causative pathwayslikely in such a multifactorial disease. Kelly Morris
Global hunt goes on for schizophrenia’s hidden genes
The European Court of Human Rightsruled on April 29 that the UKgovernment had not violated aterminally ill woman’s human rights byrefusing to grant her husbandimmunity from prosecution if he helpsher to commit suicide. The Britishwoman, Diane Pretty, has advancedmotor-neuron disease and is paralysedfrom the neck down. Under UK lawher husband faces a 14-year jailsentence if he helps her fulfil her wishesto die at a time of her own choosing.“The law has taken all my rights away”,said Pretty, talking through a voicesynthesiser at a press conference in London.
Pretty claimed that being requiredto live with the advanced stages ofmotor-neuron disease contravened fivearticles of the European Convention onHuman Rights. However, the Europeanjudges ruled that there was no violationof: the right to life; prohibition ofinhuman or degrading treatment orpunishment; the right to respect for
private life; freedom of conscience; orprohibition of discrimination.
The seven judges said: “The Courtcould not but be sympathetic to theapplicant’s apprehension that withoutthe possibility of ending her life shefaced the prospect of a distressing
death.” But, they added: “No right todie, whether at the hands of a thirdperson or with the assistance of a publicauthority could be derived.”
Speaking at a press conference inLondon, Brian Pretty, Diane Pretty’s
husband, criticised the ruling and askedthe UK public to back a campaign tolobby the government to change thelaw. “I am pleased in one respectbecause I have my wife with me for alittle longer, but I am very sad becauseher choice on when she should die hasbeen taken away from her.” MonaAshri, a lawyer for Liberty, a humanrights lobbying group, who representedPretty said: “Diane’s determinedpursuit of her rights through the lawhas put this issue and the injustice of alaw that discriminates against her,firmly in the public eye; her fightshould not be in vain, nor should it be forgotten.”
The verdict came just hours after itwas announced that another woman—Ms B, who was left paralysed from theneck down after a haemorrhage in herspinal column—had died; the UK HighCourt ruled on March 22 that theventilator that was keeping Ms B alivecould be switched off.James Butcher
“The law has taken all my rights away.”
AP P
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Woman with motor-neuron disease denied right to die
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