Bonne, Gisele

De Sandre-Giovannoli, Annachiara

Lattanzi, Giovanna

Leturcq, France

Lévy, Nicolas

Yaou, Rabah Ben

Orphanet Journal of Rare Diseases

English

PubMed

Archive Ouverte en Sciences de l'Information et de la Communication

HAL Id: hal-01769449
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An overview of new translational, clinical and
therapeutic perspectives in laminopathies and other
nuclear envelope-related diseases.
Annachiara de Sandre-Giovannoli, Nicolas Lévy, Rabah Ben Yaou, France
Leturcq, Giovanna Lattanzi, Gisele Bonne
To cite this version:
Annachiara de Sandre-Giovannoli, Nicolas Lévy, Rabah Ben Yaou, France Leturcq, Giovanna Lattanzi,
et al.. An overview of new translational, clinical and therapeutic perspectives in laminopathies and
other nuclear envelope-related diseases.. Orphanet Journal of Rare Diseases, BioMed Central, 2015,
10 (Suppl 2), ￿10.1186/1750-1172-10-S2-I1￿. ￿hal-01769449￿
INTRODUCTION Open Access
An overview of new translational, clinical and
therapeutic perspectives in laminopathies and
other nuclear envelope-related diseases.
Annachiara De Sandre-Giovannoli1, Nicolas Levy1, Rabah Ben Yaou2,3, France Leturcq4, Giovanna Lattanzi5,6,
Gisèle Bonne2,3*
From 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases
Marseille, France. 15-16 January 2015
Introduction
Defects of proteins of the nuclear envelope are now recog-
nized as a vast group of heterogeneous rare inherited dis-
eases. The first reported nuclear envelope-related disease,
has been the X-linked form of the Emery-Dreifuss muscu-
lar dystrophy (EDMD1, OMIM#310300), a condition char-
acterized by muscle weakness and wasting usually with a
humeroperoneal distribution in the first stages, early joint
contractures of Achilles tendons, elbows, neck and spine,
and cardiac involvement featuring conduction defects,
arrhythmias, subsequent dilated cardiomyopathy and fre-
quently responsible of sudden death. EDMD1 is due to
mutation of the EMD gene encoding emerin. Defects of
A-type lamins (or Lamin A and C), two other nuclear
envelope proteins were identified shortly after as being
responsible of the autosomal form of EDMD (EDMD2,
OMIM#181350). The same gene, LMNA was then found
mutated in a large spectrum of disorders, now called
Laminopathies, affecting the skeletal and cardiac striated
muscles, the peripheral nerves, the adipose tissue or lead-
ing to segmental premature ageing syndromes. These dis-
coveries have shed light on the nuclear envelope, and
mutations in genes encoding other nuclear envelope pro-
teins were regularly reported in cascade during the last
15 years.
The French network on ‘EDMD & other nuclear envel-
ope related diseases’ directed by Drs. Gisèle Bonne, Rabah
Ben Yaou and France Leturcq (Paris), organizes annual
meetings since it has been created in 2000. The Italian Net-
work for Laminopathies, directed by Dr Giovanna Lattanzi
(Bologna) and established in 2009, convene meetings twice
a year. On January, 15-16, 2015, for the first time, the two
networks held a joint meeting in Marseille at La Timone
Adults’ Hospital: The 1st French-Italian meeting on lami-
nopathies & other nuclear envelope-related diseases. This
meeting was organized by Dr. Annachiara De Sandre-
Giovannoli and Pr. Nicolas Lévy and the directors of the
French and Italian networks. The meeting aimed to pro-
vide an update of recently acquired knowledge on: i) precli-
nical researches, ii) clinical researches, iii) patient registry
and databases and iv) clinical trials in some of these rare
diseases. The meeting also provided an understanding of
the current state of the art on laminopathies and other
nuclear envelope related diseases across France, Italy and
the Iberian Peninsula and an opportunity to exchange
ideas to improve patients’ healthcare organization in
the future in a larger European/international context. The
meeting has gathered 108 participants during two days.
The first day was dedicated to communications among
professionals involved in diagnosis, research and treatment
of laminopathies and related diseases, and open to indus-
trial partners, and the second day was dedicated to com-
munications and view exchanges among professionals and
patients’ families, aiming to inform them of the state of the
art concerning their disease in terms of research and treat-
ment. Among the invited speakers, Dr. Carlos Lopez-Otin,
a leading scientist in the field of Progeria research,
Dr. Raoul Hennekam, an expert clinician in the diagnosis
and follow up of progeroid laminopathies and lipodystro-
phies, Dr. David Araujo-Vilar, the coordinator of the
European consortium on lipodystrophies. These two days
have been rich of view exchanges and informative for pro-
fessionals and patients’ families, and have helped to further
* Correspondence: g.bonne@institut-myologie.org
2Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS
FRE3617, Center for Research in Myology, F-75013 Paris, France
Full list of author information is available at the end of the article
De Sandre-Giovannoli et al. Orphanet Journal of Rare Diseases 2015, 10(Suppl 2):I1
http://www.ojrd.com/content/10/S2/I1
© 2015 De Sandre-Giovannoli et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution
License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium,
provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/
publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
develop novel as well as already established fruitful
collaborations.
It is planned not only to organize a second joint meet-
ing between the French and Italian networks, but also to
more widely open these meetings to other European col-
leagues, since already for this first edition, the Iberian
community was largely represented. No doubt that this
first edition will be the first one of a long series, since
nuclear envelope proteins and their related diseases are
extremely diverse and in continuous evolution.
Acknowledgments
We thank the patients, their families and the patient associations: the
Associazione Alessandra Proietti onlus, the Associazione Italiana Distrofia
Muscolare di Emery Dreifuss (AIDMED Onlus), the Associazione Italiana
Progeria Sammy Basso (AIProSaB Onlus), the Progeria Family Circle for their
participation. We thank “MCO congrès” for organizing the logistics of the
meeting.
This meeting was made possible thanks to the financial supports of the
Association Française contre les Myopathies (AFM), Associazione Italiana
Progeria Sammy Basso (AIProSaB onlus), Diatheva Srl (http://www.diatheva.
com), the Assistance Publique-Hôpitaux de Marseille and Assistance
Publique-Hôpitaux de Paris, the Institut National de la Santé et de la
Recherche Médicale (INSERM), the Aix-Marseille University, the Progeria
family Circle.
Authors’ details
1Aix Marseille Université, INSERM, GMGF UMR_S 910 & Department of
Medical Genetics and Cell Biology, La Timone Children’s hospital, APHM,
13385, Marseille, France. 2Sorbonne Universités, UPMC Univ Paris 06, INSERM
UMRS974, CNRS FRE3617, Center for Research in Myology, F-75013 Paris,
France. 3Institut de Myologie, F-75013, Paris, France. 4AP-HP, Groupe
Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de biochimie et génétique
moléculaire, Paris, France. 5CNR Institute for Molecular Genetics, Unit of
Bologna, Bologna, Italy. 6Rizzoli Orthopedic Institute, Laboratory of
Musculoskeletal Cell Biology, Bologna, Italy.
Published: 11 November 2015
doi:10.1186/1750-1172-10-S2-I1
Cite this article as: De Sandre-Giovannoli et al.: An overview of new
translational, clinical and therapeutic perspectives in laminopathies and
other nuclear envelope-related diseases.. Orphanet Journal of Rare
Diseases 2015 10(Suppl 2):I1.
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De Sandre-Giovannoli et al. Orphanet Journal of Rare Diseases 2015, 10(Suppl 2):I1
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An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

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