Molecular Genetic Analysis of Fetal Tissues from a Family
Affected by Myotonic Dystrophy

J 2012

Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy

LUKÁŠ, Zdeněk, Martin FALK, Iva FALKOVÁ, Josef FEIT, Lenka FAJKUSOVÁ et. al.

Základní údaje

Originální název

Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy

Autoři

LUKÁŠ, Zdeněk (203 Česká republika, garant, domácí), Martin FALK (203 Česká republika), Iva FALKOVÁ (203 Česká republika, domácí), Josef FEIT (203 Česká republika, domácí), Lenka FAJKUSOVÁ (203 Česká republika, domácí), Jarmila ZÍTKOVÁ (203 Česká republika) a Iveta VALÁŠKOVÁ (203 Česká republika)

Vydání

Česká a slovenská neurologie a neurochirurgie, Praha, Česká lékařská společnost J. E. Purkyně, 2012, 1210-7859

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 0.372

Kód RIV

RIV/00216224:14110/12:00060653

Organizační jednotka

Lékařská fakulta

UT WoS

000311242700009

Klíčová slova anglicky

myotonic dystrophy; DMPK mutation; fetal tissue; MBNL proteins

Štítky

impacted journals+books

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 10. 2. 2013 11:02, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

Development of the pathological phenotype in patients with myotonic dystrophy (MD1) largely depends on toxic effects of expanded DMPK gene repeats (CUG(exp)) transcription and their interaction with binding proteins. The relationship between DMPK CUG(exp), MBNL1 and MBNL2 has so far been studied on tissue cultures (myoblast cell lines) and transgenic animals. In this report, the first in situ molecular genetic analysis of fetal tissue from a family affected by MD1 is presented. Intrauterine development, maturation and differentiation of skeletal muscles of the fetus (360 g, 22nd week of pregnancy) were only slightly delayed. In the fetus, paternally inherited expansion of the CTG repeat in the DMPK gene (350 CTG) was confirmed by molecular analysis. Subsequent histopathological examination revealed signs of myotonic dystrophy. Fetal tissue obtained at autopsy (skeletal muscles, esophagus, stomach and intestines), were studied by histopathological, immunofluorescence (expression of MBNL1/MBNL2 proteins) and in situ hybridization (DMPK CUG(exp)) methods. Intranuclear CUG(exp)-containing foci were present in skeletal muscle fibers, muscularis externa of the esophagus, stomach and intestines, vascular smooth muscle, neurons and Schwann cells of intrinsic ganglionic plexuses, and epithelial cells. MBNL1 protein was largely co-localized with the CUG(exp) foci in all tissues examined. Contrarily, MBNL2 protein was also detected in the tissue cytoplasm. The presence of DMPK transcript with expanded CUG repeat and MBNL1 protein in the intranuclear foci of MD1 fetal tissues studied may theoretically result in sequestration of the protein and thus contribute to generation of the MD1 phenotype.

Citovat

LUKÁŠ, Zdeněk, Martin FALK, Iva FALKOVÁ, Josef FEIT, Lenka FAJKUSOVÁ, Jarmila ZÍTKOVÁ a Iveta VALÁŠKOVÁ. Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy. Česká a slovenská neurologie a neurochirurgie. Praha: Česká lékařská společnost J. E. Purkyně, 2012, roč. 75, č. 6, s. 730-736. ISSN 1210-7859.

@article{989806,
   author = {Lukáš, Zdeněk and Falk, Martin and Falková, Iva and Feit, Josef and Fajkusová, Lenka and Zítková, Jarmila and Valášková, Iveta},
   article_location = {Praha},
   article_number = {6},
   keywords = {myotonic dystrophy; DMPK mutation; fetal tissue; MBNL proteins},
   language = {eng},
   issn = {1210-7859},
   journal = {Česká a slovenská neurologie a neurochirurgie},
   title = {Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy},
   volume = {75},
   year = {2012}
}

TY  - JOUR
ID  - 989806
AU  - Lukáš, Zdeněk - Falk, Martin - Falková, Iva - Feit, Josef - Fajkusová, Lenka - Zítková, Jarmila - Valášková, Iveta
PY  - 2012
TI  - Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy
JF  - Česká a slovenská neurologie a neurochirurgie
VL  - 75
IS  - 6
SP  - 730-736
EP  - 730-736
PB  - Česká lékařská společnost J. E. Purkyně
SN  - 12107859
KW  - myotonic dystrophy
KW  - DMPK mutation
KW  - fetal tissue
KW  - MBNL proteins
N2  - Development of the pathological phenotype in patients with myotonic dystrophy (MD1) largely depends on toxic effects of expanded DMPK gene repeats (CUG(exp)) transcription and their interaction with binding proteins. The relationship between DMPK CUG(exp), MBNL1 and MBNL2 has so far been studied on tissue cultures (myoblast cell lines) and transgenic animals. In this report, the first in situ molecular genetic analysis of fetal tissue from a family affected by MD1 is presented. Intrauterine development, maturation and differentiation of skeletal muscles of the fetus (360 g, 22nd week of pregnancy) were only slightly delayed. In the fetus, paternally inherited expansion of the CTG repeat in the DMPK gene (350 CTG) was confirmed by molecular analysis. Subsequent histopathological examination revealed signs of myotonic dystrophy. Fetal tissue obtained at autopsy (skeletal muscles, esophagus, stomach and intestines), were studied by histopathological, immunofluorescence (expression of MBNL1/MBNL2 proteins) and in situ hybridization (DMPK CUG(exp)) methods. Intranuclear CUG(exp)-containing foci were present in skeletal muscle fibers, muscularis externa of the esophagus, stomach and intestines, vascular smooth muscle, neurons and Schwann cells of intrinsic ganglionic plexuses, and epithelial cells. MBNL1 protein was largely co-localized with the CUG(exp) foci in all tissues examined. Contrarily, MBNL2 protein was also detected in the tissue cytoplasm. The presence of DMPK transcript with expanded CUG repeat and MBNL1 protein in the intranuclear foci of MD1 fetal tissues studied may theoretically result in sequestration of the protein and thus contribute to generation of the MD1 phenotype.
ER  -

LUKÁŠ, Zdeněk, Martin FALK, Iva FALKOVÁ, Josef FEIT, Lenka FAJKUSOVÁ, Jarmila ZÍTKOVÁ a Iveta VALÁŠKOVÁ. Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy. \textit{Česká a slovenská neurologie a neurochirurgie}. Praha: Česká lékařská společnost J. E. Purkyně, 2012, roč.~75, č.~6, s.~730-736. ISSN~1210-7859.

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