> Spinal amyotrophy (SMA): spinal cord within reach of the gene. > Exon skipping pioneers brought together by the AFM at Myology 2008.

Spinal amyotrophy (SMA): spinal cord within reach of the gene

One of the limits of gene therapy for spinal amyotrophy (SMA) lies in the difficulty in transporting the therapeutic gene as far as the motoneurons of the spinal cord. In fact, the central nervous system (brain and spinal cord) is separated from the blood circulation by the haemato-encephalic barrier, which is very difficult to cross. Martine Barkats and her team (Généthon / Institute of Myology) have shown – for the first time in cat models – that an AAV (adeno-associated virus) vector is capable of passing from the blood circulation to the spinal cord. These encouraging results should be confirmed by more extensive studies.

Exon skipping pioneers brought together by the AFM at Myology 2008

Exon skipping was brought to light for the first time by a Japanese researcher, Dr Matsuo in 1991. It was a rare event that took place naturally in some of the muscle fibres in certain patients. The technique of exon skipping in Duchenne myopathy consists of obliging the “cell machinery” to skip certain sequences of the gene – exons – which themselves are carriers of anomalies. The protein thus obtained is incomplete, but functional. The researchers use antisense RNA to carry out this skip. The AFM is a supporter of this therapeutic lead, which offers great possibilities. Moreover, one of the symposia of the Congress has been devoted to it – the opportunity for several of the exon skipping pioneers to meet up again.

On the photo, from bottom left: Judith van Deutekom (Netherlands) - Steve Wilton (Australia) Daniel Schümperli (Switzerland) - Luis Garcia (France) - Yvan Torrente (Italy) - George Dickson (Great Britain)