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Hypertrophic Cardiomyopathy Mutation Reversed in Human Cell Line, Mouse Model With Gene Editing

In Nature Medicine, a University of Texas Southwestern Medical Center team describes a gene editing approach for correcting a hypertrophic cardiomyopathy (HCM)-linked MYH7 beta-myosin-coding gene mutation in human cardiomyocyte cells generated from induced pluripotent stem cells (iPSCs) and in a mouse model of HCM. Using their adenine base editor (ABE) approach, along with a single-guide RNA (sgRNA) approach designed to minimize off-target or bystander edits, the researchers targeted a pathogenic, missense mutation in MYH7 introduced in healthy donor iPCs with CRISPR-Cas9 editing. After testing the ABE method with several engineered deaminase enzymes, the authors applied the "ABEmax" enzyme in combination with a SpCas9-VRQR sgRNA to correct the MYH7 mutation in cardiomyocytes derived from HCM patient iPSCs — an approach they subsequently took forward to a humanized HCM mouse model. "Our findings demonstrate the potential of base editing to treat inherited cardiac diseases and prompt the further development of adenine base editor-based therapies to correct monogenic variants causing cardiac disease," they write.

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

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Researchers in Nature Ecology & Evolution find structural network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.