Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran
Short Communication
Therapeutic approaches of hereditary neuropathy disorders and promising gene therapies: a case presentation
Author(s): Paria Najarzadeh Torbati Bsc
Introduction: Researchers’ ever-increasing knowledge of
human genes and their disease-associated mutations has
inspired new approaches to drug design and discovery.
By understanding the molecular mechanisms linked to
disease, investigators can better target the activities of the
enzymes, intracellular signaling proteins, and transcription
factors that regulate disease-associated phenotypes.
Recently, biallelic pathogenic variants in PDXK were
shown to cause axonal Charcot-Marie-Tooth disease with
optic atrophy that responds to PLP supplementation.
Method: We performed whole exome sequencing and
segregation analysis using Sanger sequencing in order to
uncover the pathogenic variant(s) in a family affected by
an undiagnosed autosomal recessive peripheral neuropathy.
Pathogenicity of the variant was co.. View More»
