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Titolo:
Kennedy's disease: A triplet repeat disorder or a motor neuron disease?
Autore:
Gallo, JM;
Indirizzi:
Univ London Kings Coll, Inst Psychiat, Dept Neurol, London SE5 8AF, England Univ London Kings Coll London England SE5 8AF l, London SE5 8AF, England
Titolo Testata:
BRAIN RESEARCH BULLETIN
fascicolo: 3-4, volume: 56, anno: 2001,
pagine: 209 - 214
SICI:
0361-9230(200110/11)56:3-4<209:KDATRD>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYOTROPHIC-LATERAL-SCLEROSIS; BULBAR MUSCULAR-ATROPHY; HEAVY NEUROFILAMENT SUBUNIT; EXPANDED ANDROGEN RECEPTOR; CU,ZN SUPEROXIDE-DISMUTASE; HAMSTER FACIAL MOTONEURONS; CREB-BINDING PROTEIN; MOUSE MODEL; POLYGLUTAMINE TRACT; HUNTINGTONS-DISEASE;
Keywords:
amyotrophic lateral sclerosis; androgen receptor; inclusions; neurofilaments; polyglutamine; superoxide dismutase; tubulin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
74
Recensione:
Indirizzi per estratti:
Indirizzo: Gallo, JM Univ London Kings Coll, Inst Psychiat, Dept Neurol, Crespigny Pk, London SE5 8AF, England Univ London Kings Coll Crespigny Pk London England SE5 8AF land
Citazione:
J.M. Gallo, "Kennedy's disease: A triplet repeat disorder or a motor neuron disease?", BRAIN RES B, 56(3-4), 2001, pp. 209-214

Abstract

Two definite genetic causes of adult motor neuron degeneration have been identified to date: CAG repeat expansion in the androgen receptor gene in Kennedy's disease and point mutations in the SOD1 gene, encoding the enzyme, Cu/Zn superoxide dismutase, in some familial forms of amyotrophic lateral sclerosis. Although both have unrelated genetic causes, Kennedy's disease and SOD1-linked amyotrophic lateral sclerosis share several pathogenic features. First, expanded androgen receptor and mutant Cu/Zn superoxide dismutasehave a propensity to aggregate into insoluble complexes and form inclusionbodies in affected neurons. Deposits of mutant proteins could be detrimental to neuronal viability by interfering with the normal housekeeping functions of chaperones and of the ubiquitin/proteasome system. Secondly, cytoskeletal function may be impaired in both diseases as decreased transactivational activity of expanded androgen receptor may cause an abnormal pattern oftubulin expression in motor neurons in Kennedy's disease and disruption ofneurofilament organisation is a hallmark of amyotrophic lateral sclerosis. The concept of activation of overlapping cell death cascades by two distinct genetic defects could help elucidating downstream pathogenic processes and may provide novel targets for pharmacological intervention or gene therapy for the treatment of motor neuron disorders. (C) 2001 Elsevier Science Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 15:26:26