Local doctors develop gene-editing tech to streamline genetic disease research

Local medical experts have developed a new gene-editing strategy targeting mitochondria to streamline the research on early intervention for mitochondrial genetic diseases.

Mitochondrial genetic diseases are caused by defects and mutations of mitochondrial DNA (mtDNA). Mutations in key regions can lead to serious diseases such as Leber's hereditary optic neuropathy (LHON) causing visual loss, Leigh syndrome causing neurological disorder, and MELAS, a multi-organ disease with broad manifestations including stroke-like episodes and dementia. All these diseases have a high rate of disability, imposing serious pain and economic burdens on patients and their families.

Ti Gong

Blocking the diseases in the pre-pregnancy and prenatal states is the most effective measure. Dr Kuang Yanping from the Shanghai 9th People's Hospital led a team to carry out in vitro fertilization technology on mitochondrial genetic diseases and they developed a series of new technologies. However, these technologies need in-depth clinical studies on disease models to confirm their safety and effectiveness.

Such disease models are few, let alone the exact models targeting the exact mutation. The main reason is the low efficiency of current mtDNA editing technology, which can create different types of disease models.

To break that bottleneck and improve the research on mtDNA ability, Kuang's team developed a new efficient germline mtDNA-based editing technology on early follicles. It can not only do editing on hard-to-edit sites compared to traditional editing, but also improves the efficiency by more than three times, greatly improving research speed.

Based on the new gene-editing technology, the team has developed the world's first mice model with human LHON disease, enabling experts to undertake tests and research.

The technology was published as a cover article by world-leading journal Molecular Therapy-Nucleic Acids.