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Protein Restoration

Researchers led by Kyoto University's Shinya Yamanaka compared the use of CRISPR- and TALEN-based approaches to edit dystrophin gene mutations in iPS cells derived from a Duchenne muscular dystrophy patient.

As they report in Cell Stem Cell, Yamanaka and his colleagues also tried three different strategies for modifying the loss-of-function dystrophin gene mutation: exon skipping, frameshifting by adding indel mutation, and knock-in of the missing exon. Exon knock-in, which restored full-length dystrophin protein, worked best, the researchers report.

Corrected iPS cells, they further report, could be differentiated into skeletal muscles. Using patient-derived iPS cells to treat Duchenne muscular dystrophy may limit rejection, though the researchers note that additional challenges, such as how to best transplant iPS cell-derived myogenic cells, need to be overcome before it can be tried clinically.

The researchers also report that using a k-mer database enabled them to find a unique target region and reduce off-target effects. 

While such an approach can't fix all the muscle fibers in a patient, the Guardian's Ian Sample notes that if enough muscle fibers can be targeted with a fix, it could still improve quality of life.

"It's a lovely approach. If these cells integrate into muscle in animals I'd expect it to work in humans because skeletal muscle is skeletal muscle," Chris Mason from University College London tells Sample. "You don't need to correct everything. If you can improve muscle strength by a small amount, you can help people in normal daily [activities]."

The Scan

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.

Family Genetic Risk Score Linked to Diagnostic Trajectory in Psychiatric Disorders

Researchers in JAMA Psychiatry find ties between high or low family genetic risk scores and diagnostic stability or change in four major psychiatric disorders over time.

Study Questions Existence of Fetal Microbiome

A study appearing in Nature this week suggests that the reported fetal microbiome might be the result of sample contamination.

Fruit Fly Study Explores Gut Microbiome Effects on Circadian Rhythm

With gut microbiome and gene expression experiments, researchers in PNAS see signs that the microbiome contributes to circadian rhythm synchronicity and stability in fruit flies.