This new webpage brings together NM related science news. And when there is a quiet spell, we will try and squeeze something out of the researchers who we adore and respect so much for working hard to find the causes of nemaline myopathy, leading to developing treatments. Contributions are always welcome.
Ryanodine receptor type 3 (RYR3)
Learn more on this gene >> click here
Nem11 Myopalladin (MYPN)
A new gene causing nemaline myopathy has been discovered. As well as skeletal muscle, NEM11, Myopalladin(MYPN) has been linked to several forms of cardiomyopathy.
Latest paper on the NEBULIN gene from the research team in Finland.
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Read the Open Access full paper.
New research in Spain.
Details are available via the Spanish Encuentro de personas con MIOPATÍA NEMALÍNICA y familiares on Facebook or, contact me (davidmcd_@hotmail.com) for the email address of a Spanish friend who can explain more.
Os contactamos desde el equipo de Rare Commons del Hospital Sant Joan de Déu de Barcelona, para animaros a que solicitéis el acceso de la enfermedad de vuestro hijo/a a nuestra plataforma de investigación.
Vuestra demanda de participación será valorada junto con el resto de solicitudes de recibidas. Comentaros que actualmente nos encontramos en la fase piloto de Rare Commons que integra inicialmente tres enfermedades: el síndrome de Lowe, el síndrome de CDG y las ENACH.
Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3.
Full text article
in Journal of Clinical Investigation.
leiomodin 2 (Lmod2)
Scientists decode structure at root of muscular disease
Clinical utility gene card update for : NEMALINE MYOPATHY
Full text article
in European Journal for Human Genetics.
TREAT-NMD Newsletter
Freely available report on the EuroBioBank
A recent report published in the European Journal of Human Genetics describes the development of the EuroBioBank (EBB) network over the past decade, its achievements, and the major challenges it has already faced and expects to face in the future.
Established in 2001 the EBB network is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs).
EBB facilitates access to RD biospecimens and associated data and has recently become a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards and best practices in RD biobanking, is implementing integration with RD patient registries and 'omics' data, thus challenging the fragmentation of international cooperation in the field.
Read the full open access report here
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Recent NM research grant for work on the nebulin gene being done in USA by Henk Granzier Ph D.
Hi Lindsay,
I trust all is well with you and in the Beggs Lab.
I recently watched a video clip on Youtube about a therapy being developed by Dr. Martin "Casey" Childers in mice and dogs with myotubular myopathy. The NM Facebook groups are very keen to learn more about this and if it is close to working for nemaline myopathy too. Do you have any info or statements available that I could pass on?
Regards,
David McDougall
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Hello David,
It is good to hear from you! I hope that you are doing well.
That video clip is causing quite the excitement in the MTM community, and I can imagine that the news is quickly spreading through the other congenital myopathy communities.
We don't have any official statements, but I spoke with Alan about your question. Unfortunately for nemaline myopathy, there are barriers that will prevent this exact gene therapy approach from being used. The NEB gene is too large for successful gene therapy and for ACTA1 mutations, it would require removing something rather than replacing something that is missing to help improve symptoms. Current research efforts for nemaline myopathy include discovering new genes, which leads to a better understanding of disease mechanisms. We are also generating animal models of nemaline myopathy so drug-based therapies can be explored.
I'm sorry that we don't have any additional information to provide to you at this time, but please let me know if I can further clarify things or answer any other questions.
Best,
Lindsay
Lindsay Swanson, MS, CGC
Genetic Counselor
Boston Children's Hospital
Dr. Gina Ravenscroft who works alongside Prof. Nigel Laing in Western Australia has recently published about a new gene discovery in nemaline myopathy. KLHL40 is now the 9th gene found to cause NM. See table below.
A newspaper report is available here.
For quite a while ACTA1 was the only gene known to cause NM that could be tested for. It is the simplest of the genes currently known for NM. The other genes are very complex and finding the marker that indicates NM in those genes is like trying to identify a single letter in a novel. But clinical genetic testing more of the genes 9 associated with NM is now available in the US!
NEM2
Nebulin
In a study performed in western Sweden, the prevalence of nemaline myopathy was determined to be 1:179,000 and this was the most common congenital myopathy subtype.
(Darin, 2000; cited in Amburgy, 2011)
See the study here
Currently, we know of at least 10 different genes that are associated with NM. These genes are known by their abbreviations: ACTA1, NEB, TPM2, TPM3, TNNT1, CFL2, . Each one of these genes carries instructions to make a protein that is important for muscle function. A person with NM may have an alteration in any one of these five genes, resulting in a protein that does not work properly. Since there are patients who have nemaline myopathy but no detectable gene alteration, we suspect that there may be other genes that are involved in the cause of this condition. This is why our group is also looking for alterations in other genes as well. Since NM is a condition that arises from gene alterations, it may be passed on from parents to children. There are some families, however, in which NM arises for the first time, with no previous family history of the disorder. We say that in these families NM occurred sporadically. Some families have contacted us to express interest in learning the recurrence chance of NM and how it is passed on in their family. Often, the only way to know this information is through genetic studies.
We are a group of scientists and doctors studying the genes that may be involved in the cause of muscular disorders. One of our goals is to determine which genes and proteins are involved in nemaline myopathy, a rare muscular disorder. With the generous help of enough candidate families, we may be able to learn information that will hopefully help us understand this disorder, improve diagnosis and develop new treatments. We currently know of five different genes associated with nemaline myopathy. Each of these genes carries instructions to make a protein that is important for muscle function. These proteins are called actin, nebulin, tropomyosin 2, tropomyosin 3, and troponin T. An alteration in any of these genes can result in a non-working protein, causing nemaline myopathy. Some patients do not have an alteration in any of the genes we know about. For this reason, we suspect that there may be additional genes involved in nemaline myopathy yet to be discovered. If you are the parent of a child with nemaline myopathy, or if you yourself are affected, you may be able to make a meaningful difference by helping us find new genes and proteins associated with nemaline myopathy.
To read more about genetic counsilling, please visit the National Society of Genetic Counsillors (NSGC) web site.
The NSGC also provides contact information of genetic counsillors by area.
See details on Dr. Beggs page for contacting a Genetic Councillor in Boston, USA.
Dianne Petrie OAM
Director
Association of Genetic Support of Australasia (AGSA)
66 Albion Street
Surry Hills NSW 2010 Australia
+61 2 9211 1462
www.agsa-geneticsupport.org.au
In 2010 Meriel (aged 21 months) was diagnosed with Nemaline myopathy, a very rare muscle condition with no treatment or cure, which changed the lives of her family overnight.
Setting up a family fund like MAP Nemaline is a great way to fundraise for Muscular Dystrophy UK to keep our vital research moving forward.
Learn more »»