CMT2A: recent interesting scientific studies published on Pubmed

We would like to bring some scientific studies about CMT2A we recently found on Pubmed to your attention. We divided them by country as we usually do on our website, in the section Resources, where you can find a large literature about Charcot-Marie-Tooth type 2A. 

ITALY

A scientific study about zebrafish carried out in the Department of Biology of the University of Padua by Dr Bergamin, Dr Mostacciuolo and their team.

ZEBRAFISH TG (HB9: MTS-KAEDE): A NEW TOOL FOR STUDYING THE IN VIVO MOVEMENT OF AXONAL MITOCHONDRIA 

Bergamin G, D Cieri, Vazza G, F Argenton, Mostacciuolo ML

 

USA

A scientific study about a seven months child suffering from CMT2A with a very severe mutation, autosomal recessive, carried out in California and North Carolina.

AUTOSOMAL RECESSIVE MFN2-RELATED CHARCOT-MARIE-TOOTH DISEASE WITH DIAPHRAGMATIC WEAKNESS: CASE REPORT AND LITERATURE REVIEW.

Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, A Harper, Demmer L

 

UNITED KINGDOM

A study carried out in the United Kingdom by Dr Mary Relly and his team.

SEMI-DOMINANT MUTATIONS IN MFN2-RELATED NEUROPATHY AND IMPLICATIONS FOR GENETIC COUNSELING.

Tomaselli PJ, blushing AM, Polke JM, Poh R, Blake J, Reilly MM

 

CZECHOSLOVAKIA

A scientific study that actually brings up a new mutation of the gene MFN2.

MASSIVELY PARALLEL SEQUENCING DETECTED IN MFN2 GENE MUTATION IN THE MISSED BY SANGER SEQUENCING DUE TO A PRIMER MISMATCH ON AN SNP SITE.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P.

 

CANADA-AUSTRALIA

A study carried out in Canada and Australia on a new homozygous mutation MFN2.

HOMOZYGOUS MUTATIONS IN MFN2 MULTIPLE CAUSES SYMMETRIC LIPOMATOSIS ASSOCIATED WITH NEUROPATHY.

Sawyer SL, Ng Cheuk-Him A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, J Majewski, Boycott KM, Screaton RA, G. Nicholson

We invite you to enjoy reading and to suggest or share with us any interesting studies that you have found!

 

 

Forum of rare diseases of Piemonte and Valle D’Aosta

A-RARE, the forum of rare diseases’ associations of Piemonte and Valle D’Aosta has been officially introduced during the Conference organized by the CMID at the San Giovanni Bosco Hospital in Turin on the occasion of Rare Diseases Day (February 28, 2017).

An interesting project made to create a network among the different associations of patients (and their families) suffering from rare diseases to make their voice heard by those who have the institutional duty to protect their rights.

Twenty-eight associations, including ours, have drawn up a program document that contains  the mission and goals of the project, together with an initial list of needs expressed by the associations which are going to be discussed and presented to the competent institutions.

We have a very long way to go, but the team spirit which drives every meeting among the founders’ associations give us hope.

Terrine of three meat with a perfume of lemon

Today we made a nutritious and tasty dish, delicious and easy to make: the terrine of minced meat with a perfume of lemon.

We have been guided by the principles of hypotoxic diet. This dish, consisting in beef and white meat, does not contain fat, gluten or dairy products; for that very reason it is excellent for those who suffer from intolerances. Furthermore, it has been cooked in water bath, allowing the mixture to be softer and the surface of the meat not to burn (in order to avoid any carcinogenic substances production).

Here it is the recipe:
terrine-of-minced-meat-with-a-perfume-of-lemon
After having removed its skin, put sausage together with beef, egg, vegetable cream, some salt, grated lemon peel, a pinch of grated nutmeg and little pepper, if you like, in the blender.

Cut chicken into strips, then salt and pepper to taste.

Fill a non-stick terrine (3 x 8 inch) alternating the mixture with the chicken breast strips.
Cook the terrine in water bath, covered with tin foil, in a preheated oven at 180 °C for about 55 minutes.

Serve cold or warm and cut into slices; adding, if you like (like in the picture above), an emulsion of olive oil, salt, lemon and mustard. It can be accompanied by a mixed salad.

Buon appetito!

 

The role of nutritional integration in muscle activity (Congress)

We have just published on our website the interesting contribution from Dr Grazia D’Angelo to the Conference THE ROLE OF NUTRITIONAL INTEGRATION IN MUSCLE ACTIVITY held in Milan University last October:

NUTRITION AND NURTURING THE DYSTROPHIC PATIENT (click here)

Dr D’Angelo is responsible for the Muscle Disorders Operating Unit at Medea Institute of Bosisio Parini, which is the rare diseases presidium of Lombardy Region. As member of our Scientific Committee, she let us to publish a summary of the main points and the content of her contribution regarding some important topics common to Duchenne Muscular Distrophy and all degenerative neuromuscular disorders (or to any other slow developing diseases such as CMT2A)

Sport is life! When dreams come true…

I longed for dancing since I was a child. I was fascinated by the grace, the beauty and the elegance of the dancers. I thought it was a fantasy that cannot be realized.  I’ve waited 18 years, but now that dancing is no longer a dream I am very happy!

Dancing is a great thrill for me. I can show through motion what music makes me feel. While I am dancing everything around me disappears!

Giovannella, young founder of the Mitofusin 2 Project, finally got her wish and nowadays she is being rewarding by big satisfactions. Together with her partner Jessica, she won the silver medal at the Paralympic National Sporting Dance Championships (Rimini, 2013 July) making a duet on the music of Bach with the choreography of Marilena Goria.

She started dancing on wheelchair two years ago when she met Marilena, her teacher. Marilena Goria is a dancer and a choreographer who founded and runs “Ballo anch’io” (I can dance too), an amateur sport club affiliated to the Federation of Sporting Dance where people with disabilities can be taught to dance.

Nowadays Giovannella plays competitive sporting dance, together with a group of talented athletes, with great commitment and passion. The benefits she is profiting from doing that are countless, both physically (a real improvement of the muscle tone of trunk and arms, better posture, improvement of ability to breathe) and mentally (better mood and enhancing of her quality of life).

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She has already achieved some very encouraging results (through hard work!), but there is still a long way to go. Lots of practice needs to be done and many challenges still lie ahead, such as the forthcoming selections for the television broadcasting Dancing with the stars.

Playing sport and having fun (while making your dream come true) is a good thing! Sport is for everybody, even for people who suffer from Charcot-Marie-Tooth 2A. Everybody can dance, each according with their own abilities, but all with the same fun and satisfaction!

A new and interesting publication on Mitofusin 2

A new and interesting study, carried out in Usa, about correcting mitochondrial fusion by manipulating mitofusin has just been published by the eminent scientific journal Nature. This might be a whole new approach! Click on the link below:

http://www.nature.com/nature/journal/vaap/ncurrent/full/nature20156.html#author-information

The world seen from Mitofusin 2 Project website

375 cities, 961 visits, 852 visitors. Those are some data,  coming from analytics, our website www.progettomitofusina.com recorded in year of activity .

So, we have been visited by people from New York to Samara, from Bejing to Naples, from St. Petersburg to Palo Alto, through Port Elisabeth and Pape’te, Wynnewood and Reikiavik (as showed by the picture).

Many people from all over the world have opened our pages. We were just four patients when we started, nowadays we are more than 150 coming from everywhere and talking lots of languages. We have come a long way, but we are not there yet.

Recent studies tell us that people suffering from Mitofusin 2 related neuropathies (CMT2A/HMSN2A form and in its variants) might be a few thousands in Europe and United States. Diagnosed cases are, though, still too few and patients are not in contact with each other. But they exist, according to researchers, and we want to find them, whenever they are!

Charcot-Marie-Tooth type 2 A is a rare disease affecting one in 100.000. There are many patients throughout the world not yet able to name their disease or just to collect information about it. Help them find us! Visit our website, follow our blog and Facebook page, share, share,share! It is extremely important that those people get to us.

Rare diseases are little known and not attractive for pharmaceutical companies which works on large numbers. Finding other patients to build a large group is essential for us because alone we are rare, but together we are stronger!

Thank you for joining us on this journey, we need you further yet. There is still a long way to go. Thank you kindly from Mitofusin 2 Project!