Gene therapy offers hope for spinal muscular atrophy cure

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. 

I began writing about genetics decades ago, and the best thing about getting older is witnessing the development of targeted treatments for single-gene diseases that I never thought would happen. But it is happening, for cystic fibrosis, Duchenne muscular dystrophy, hemophilia, and many other conditions. The steps may be incremental for some conditions, but researchers are deploying a staggeringly diverse armamentarium of techniques and technologies to fight genetic disease.

Now spinal muscular atrophy enters the arena of the possible. In SMA, motor neurons in the spinal cord degenerate. Skeletal (voluntary) muscle loses function, producing weakness and impairing mobility. Also called “floppy baby syndrome,” SMA results from mutation in the “survival motor neuron” gene (SMN1). Incidence of SMA is one in 10,000 in the U.S., and one in 50 people are carriers – that’s 6 million people who have one copy of the mutation.

SMA is a classic autosomal recessive illness: two carriers pass the disease to each child with a theoretical frequency of one in four. But the genetic set-up is unusual, because the human genome includes two SMN genes. Nearly all patients have mutations, typically deletions, in both copies of the SMN1 gene, which is on the short arm of chromosome 5. The chromosomal neighborhood is a bit unstable because it is riddled with DNA sequence symmetry, including similar genes and repeats. This confounds DNA replication into making two copies instead of one, like repeating a word word in a sentence. That could be how two versions of the gene arose.

Read full, original post: Understanding Gene Offers Hope for Spinal Muscular Atrophy

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