Embryo genetics

 To counteract infertility, which affects 15% of couples of reproductive age attempting to conceive, In vitro fertilization (IVF) is increasingly popular. It contributes to nearly 5 % of births in countries, such as Denmark. This technology led to preimplantation genetic testing (PGT),

 where embryos are screened for conditions such as an X-linked disorder. This testing allowed for the identification of the embryos, with the affected alleles, and implant only the embryos that were unaffected (homozygous unaffected or heterozygous unaffected dominant) and avoid all affected embryos (homozygous affected). This allowed for the extension of the concept to PGT for monogenic diseases (PGT-M). This includes Mendelian single-gene defects (autosomal dominant/recessive and X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and Human Leukocyte Antigen (HLA), typing for histocompatible cord blood stem cell transplantation. This article summarizes the research on PGT, in several different articles, as it pertains to the screening of the genome for more complex genetic diseases. It concludes with the notion that the research on this topic will only continue to evolve and expand in the future.

This article is more of a summary of the findings of many other research articles so specific details and specifics about each research method are minimal. It is very likely that PGT will become more integral, as the technology advances. This article brings together several compelling experimental designs that can be further explained in the article that they originate.

Link to article “Embryo Genetics”:  https://doi.org/10.3390%2Fgenes12010118

other related links:  https://doi.org/10.1371/journal.pmed.1001356

 https://doi.org/10.3390/genes11080871

Virus Vector Cures Myotubular Myopathy

Researchers from Harvard Medical School, Washington University, and France have made a new development that can lead to a future cure for myotubular myopathy. Myotubular myopathy belongs to a group of genetic disease that are centronuclear myopathies which demonstrate an X-linked inheritance pattern which primary affect males.

Myotubular myopathy is caused by a mutation of the MTM1 gene which cause nuclei of muscle cells to develop and remain within the center of the muscle cell instead of the the nuclei developing at the end of muscle fibers. Assumptions are made that the MTM1 gene may affect muscular development since immature muscle fibers of healthy individuals have central nucleated muscle cells but eventually move toward the ends.

The researchers had developed an adeno-associated virus (AAV) to act as a vector and deliver a normal copy of the MTM1 gene to the entire musculature. The AAV was administered by an intravenous injection into ten week-old dogs that showed first signs of myotubular myopathy, and over time the signs of this disease had gone away resulting a the restoration of normal muscle strength and function.

Tremendous work was done by this group of researchers and is a large step in a possible cure for muscular genetic disease in humans.


https://www.omim.org/entry/310400?search=myotubular%20myopathy&highlight=myopathic%20myotubular%20myopathy
https://rarediseases.org/rare-diseases/x-linked-myotubular-myopathy/