A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

Seyed Yahya Anvar; Yotam Raz; Nisha Verway; Barbara van der Sluijs; Andrea Venema; Jelle J Goeman; John Vissing; Silvère M van der Maarel; Peter A C 't Hoen; Baziel G M van Engelen; Vered Raz

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

Seyed Yahya Anvar, Yotam Raz, Nisha Verway, Barbara van der Sluijs, Andrea Venema, Jelle J Goeman, John Vissing, Silvère M van der Maarel, Peter A C 't Hoen, Baziel G M van Engelen, Vered Raz

Department of Neurology

44 Citations (Scopus)

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we investigated how symptoms in OPMD initiate only at midlife and why a subset of skeletal muscles is predominantly affected. Genome-wide RNA expression profiles from Vastus lateralis muscles human carriers of expanded-PABPN1 at pre-symptomatic and symptomatic stages were compared with healthy controls. Major expression changes were found to be associated with age rather than with expression of expanded-PABPN1, instead transcriptomes of OPMD and elderly muscles were significantly similar (P

Original language	English
Journal	Aging
Volume	5
Issue number	6
Pages (from-to)	412-26
Number of pages	15
ISSN	1945-4589
Publication status	Published - Jun 2013

Keywords

Adolescent
Adult
Aged, 80 and over
Aging
Animals
Case-Control Studies
Cell Aging
Gene Expression Regulation
Humans
Mice
Middle Aged
Muscle Weakness
Muscle, Skeletal
Muscular Dystrophy, Oculopharyngeal
Poly(A)-Binding Protein I
RNA, Messenger
Transcriptome
Young Adult

Cite this

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title = "A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging",

abstract = "Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we investigated how symptoms in OPMD initiate only at midlife and why a subset of skeletal muscles is predominantly affected. Genome-wide RNA expression profiles from Vastus lateralis muscles human carriers of expanded-PABPN1 at pre-symptomatic and symptomatic stages were compared with healthy controls. Major expression changes were found to be associated with age rather than with expression of expanded-PABPN1, instead transcriptomes of OPMD and elderly muscles were significantly similar (P",

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author = "Anvar, {Seyed Yahya} and Yotam Raz and Nisha Verway and {van der Sluijs}, Barbara and Andrea Venema and Goeman, {Jelle J} and John Vissing and {van der Maarel}, {Silv{\`e}re M} and {'t Hoen}, {Peter A C} and {van Engelen}, {Baziel G M} and Vered Raz",

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language = "English",

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journal = "Aging",

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T1 - A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

AU - Anvar, Seyed Yahya

AU - Raz, Yotam

AU - Verway, Nisha

AU - van der Sluijs, Barbara

AU - Venema, Andrea

AU - Goeman, Jelle J

AU - Vissing, John

AU - van der Maarel, Silvère M

AU - 't Hoen, Peter A C

AU - van Engelen, Baziel G M

AU - Raz, Vered

PY - 2013/6

Y1 - 2013/6

N2 - Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we investigated how symptoms in OPMD initiate only at midlife and why a subset of skeletal muscles is predominantly affected. Genome-wide RNA expression profiles from Vastus lateralis muscles human carriers of expanded-PABPN1 at pre-symptomatic and symptomatic stages were compared with healthy controls. Major expression changes were found to be associated with age rather than with expression of expanded-PABPN1, instead transcriptomes of OPMD and elderly muscles were significantly similar (P

AB - Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we investigated how symptoms in OPMD initiate only at midlife and why a subset of skeletal muscles is predominantly affected. Genome-wide RNA expression profiles from Vastus lateralis muscles human carriers of expanded-PABPN1 at pre-symptomatic and symptomatic stages were compared with healthy controls. Major expression changes were found to be associated with age rather than with expression of expanded-PABPN1, instead transcriptomes of OPMD and elderly muscles were significantly similar (P

KW - Adolescent

KW - Adult

KW - Aged, 80 and over

KW - Aging

KW - Animals

KW - Case-Control Studies

KW - Cell Aging

KW - Gene Expression Regulation

KW - Humans

KW - Mice

KW - Middle Aged

KW - Muscle Weakness

KW - Muscle, Skeletal

KW - Muscular Dystrophy, Oculopharyngeal

KW - Poly(A)-Binding Protein I

KW - RNA, Messenger

KW - Transcriptome

KW - Young Adult

M3 - Journal article

C2 - 23793615

SN - 1945-4589

VL - 5

SP - 412

EP - 426

JO - Aging

JF - Aging

IS - 6

ER -

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

Abstract

Keywords

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