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Preimplantation Genetic Testing for Spastic Paraplegia Type 3.
Christos Yapijakis1,2,3, Iphigenia Gintoni4,5, Costas Voumvourakis6
1Unit of Orofacial Genetics, 1st Department of Pediatrics, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr.
Advances in Experimental Medicine and Biology
|January 13, 2022
Summary
Preimplantation genetic testing successfully identified unaffected embryos for Spastic Paraplegia type 3 (SPG3), a genetic disorder affecting lower limb function. This offers a preventive option for families carrying the ATL1 gene mutation.
Area of Science:
- Neurogenetics
- Reproductive Medicine
- Molecular Diagnostics
Background:
- Spastic Paraplegia type 3 (SPG3) is an autosomal dominant neurogenetic disorder characterized by progressive lower limb spasticity and weakness.
- Mutations in the ATL1 gene, encoding atlastin-1, are the primary cause of SPG3, impacting corticospinal neuron function.
- Genetic counseling is crucial for individuals with SPG3 seeking reproductive options.
Observation:
- A 30-year-old woman diagnosed with SPG3 due to an ATL1 gene mutation (c.715C>T) pursued preimplantation genetic testing.
- An allele-specific PCR method was developed to differentiate between normal and mutant ATL1 alleles in embryos.
- Eleven embryos underwent preimplantation genetic testing for the SPG3 mutation.
Findings:
- Five embryos carried the c.715C>T mutation in the ATL1 gene, while six embryos had normal alleles.
- Following three failed IVF attempts and a miscarriage, a pregnancy was achieved using an unaffected embryo.
- The successful pregnancy resulted in a healthy offspring, free from the SPG3 mutation.
Implications:
- Preimplantation genetic testing for SPG3 provides a viable reproductive strategy for affected individuals.
- This molecular testing approach can prevent the transmission of SPG3, improving quality of life for future generations.
- Genetic counseling and advanced reproductive technologies are essential for managing hereditary neurodegenerative disorders.
