Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

被引：195

作者：

Chartier-Harlin, Marie-Christine ^{[3
,4
,5
]}

Dachsel, Justus C. ^{[1
,2
]}

Vilarino-Gueell, Carles ^{[6
]}

Lincoln, Sarah J. ^{[1
,2
]}

Lepretre, Frederic ^{[3
,4
,5
]}

Hulihan, Mary M. ^{[1
,2
]}

Kachergus, Jennifer ^{[1
,2
]}

Milnerwood, Austen J. ^{[6
]}

Tapia, Lucia ^{[6
]}

Song, Mee-Sook ^{[6
]}

Le Rhun, Emilie ^{[7
]}

Mutez, Eugenie ^{[3
,4
,5
,7
]}

Larvor, Lydie ^{[3
,4
,5
]}

Duflot, Aurelie ^{[3
,4
,5
]}

Vanbesien-Mailliot, Christel ^{[3
,4
,5
,8
]}

Kreisler, Alexandre ^{[3
,4
,5
,7
]}

Ross, Owen A. ^{[1
,2
]}

Nishioka, Kenya ^{[1
,2
]}

Soto-Ortolaza, Alexandra I. ^{[1
,2
]}

Cobb, Stephanie A. ^{[1
,2
]}

Melrose, Heather L. ^{[1
,2
]}

Behrouz, Bahareh ^{[1
,2
]}

Keeling, Brett H. ^{[1
,2
]}

Bacon, Justin A. ^{[1
,2
]}

Hentati, Emna ^{[1
,2
]}

Williams, Lindsey ^{[1
,2
]}

Yanagiya, Akiko ^{[9
,10
]}

Sonenberg, Nahum ^{[9
,10
]}

Lockhart, Paul J. ^{[11
]}

Zubair, Abba C. ^{[12
]}

Uitti, Ryan J. ^{[1
,2
]}

Aasly, Jan O. ^{[13
]}

Krygowska-Wajs, Anna ^{[14
]}

Opala, Grzegorz ^{[15
]}

Wszolek, Zbigniew K. ^{[1
,2
]}

Frigerio, Roberta ^{[16
]}

Maraganore, Demetrius M. ^{[16
]}

Gosal, David ^{[17
]}

Lynch, Tim ^{[17
,18
]}

Hutchinson, Michael ^{[19
]}

Bentivoglio, Anna Rita ^{[20
]}

Valente, Enza Maria ^{[21
,22
]}

Nicholso, William C. ^{[23
]}

Pankratz, Nathan ^{[24
]}

Foroud, Tatiana ^{[24
]}

Gibson, Rachel A. ^{[25
]}

Hentati, Faycal ^{[26
]}

Dickson, Dennis W. ^{[1
,2
]}

Destee, Alain ^{[3
,4
,5
,7
]}

Farrer, Matthew J. ^{[1
,2
,6
]}

机构：

[1] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[2] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

[3] Univ Lille Nord France, F-59000 Lille, France

[4] IFR114 IMPRT, F-59000 Lille, France

[5] IRCL, INSERM, UMR837, F-59045 Lille, France

[6] Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 2B5, Canada

[7] Ctr Hosp Reg Univ Lille CHRU, Dept Neurol & Movement Disorders, F-59000 Lille, France

[8] USTL, Dept Neurosci, F-59655 Villeneuve Dascq, France

[9] McGill Univ, Dept Biochem, Montreal, PQ H3A 3R1, Canada

[10] McGill Univ, Goodman Canc Res Ctr, Montreal, PQ H3A 3R1, Canada

[11] Murdoch Childrens Res Inst, Bruce Lefroy Ctr Genet Hlth Res, Parkville, Vic 3052, Australia

[12] Mayo Clin, Dept Lab Med & Pathol, Jacksonville, FL 32224 USA

[13] St Olavs Hosp, Dept Neurol, N-7006 Trondheim, Norway

[14] Jagiellonian Univ, Coll Med, Dept Neurol, PL-31358 Krakow, Poland

[15] Med Univ Silesia, Dept Neurol Aging Degenerat & Cerebrovasc Disorde, PL-40055 Katowice, Poland

[16] Mayo Clin, Dept Neurol, Rochester, MN 55909 USA

[17] Mater Misericordiae Univ Hosp, Dublin Neurol Inst, Dublin 7, Ireland

[18] Univ Coll Dublin, Conway Inst Biomol & Biomed Res, Dublin 4, Ireland

[19] St Vincents Univ Hosp, Dept Neurol, Dublin 4, Ireland

[20] Catholic Univ, Inst Neurol, I-00168 Rome, Italy

[21] Ist Ricovero & Cura Carattere Sci IRCCS Casa Soll, Mendel Lab, I-71013 San Giovanni Rotondo, Italy

[22] Univ Messina, Dept Med & Surg Pediat Sci, I-98124 Messina, Italy

[23] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[24] Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA

[25] GlaxoSmithKline Inc, Res & Dev, Greenford CM19 5AW, Hammersmith, England

[26] Inst Natl Neurol, Serv Neurol, Tunis 1007, Tunisia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 89卷 / 03期

关键词：

DIAGNOSTIC-CRITERIA; PROTEIN-SYNTHESIS; ALPHA-SYNUCLEIN; MTOR; PATHOGENESIS; INHIBITION; MECHANISMS;

D O I：

10.1016/j.ajhg.2011.08.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3E binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.

引用

页码：398 / 406

页数：9

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