Gene therapy is emerging as a promising candidate to treat a wide range of metabolic disorders. Recently, Dr. George Mcilroy and his team at the University of Aberdeen Rowett Institute and Cardiovascular and Diabetes Centre demonstrated the efficacy of an Adeno-associated Virus (AAV) gene therapy in a pre-clinical model of lipodystrophy which resulted in prolonged and rapid benefits to metabolic health.

Congenital generalized lipodystrophy type 2 (CGL) is caused by mutations affecting the BSCL2 gene. This relatively rare genetic disorder affects ~1 in a million people and causes severe metabolic disease due to the critical function of BSCL2 in adipose tissue development and maintenance. The current therapy used to treat CGL requires daily injections and is not widely available.

“Our research reveals that gene therapy offers great potential as a treatment for lipodystrophy. Lipodystrophy is a rare disorder, where the body cannot make or maintain adipose tissue. Consequently, individuals with lipodystrophy can develop severe metabolic complications, including type 2 diabetes and fatty liver disease,” Dr. Mcilroy said.

Dr.Mcilroy and his team at the University of Aberdeen were able to develop a recombinant AAV that expressed the BSCL2 gene and then tested their therapy in pre-clinical mouse model of CGL. The team found that their therapy could successfully target adipocyte progenitors and restored expression of BSCL2 in target tissues which resulted in correction of metabolic phenotypes.

Dr. Mcilroy further elaborated, “Our findings demonstrate that adeno-associated virus (AAV) mediated gene therapy can restore adipose tissue development and metabolic health in a pre-clinical mouse model of lipodystrophy.”

Overall, this study demonstrates the effectiveness of an AAV gene therapy in treatment of a severe metabolic disorder in a pre-clinical model and provides insight into a potential therapeutic strategy for treating CGL.

“We chose to source AAV vectors from VectorBuilder due to the ease of online vector design, provision of expert technical support and vector production methods, which ensure high titer, purity and potency,” Dr. Mcilroy stated.

Construction of the AAV vectors and AAV packaging was enabled by VectorBuilder’s Vector Design Studio. VectorBuilder offers superior quality AAV single-stranded and self-complementary vector cloning andpackaging for your research and clinical needs.

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Source: Nadine Sommer, Ahlima Roumane, Weiping Han, Mirela Delibegović, Justin J. Rochford, George D. Mcilroy.
Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy.
Molecular Therapy - Methods & Clinical Development, 2022
https://doi.org/10.1016/j.omtm.2022.09.014