Myotonic Dystrophy DMPK

Similar to FRM1, DMPK is an autosomal dominant dynamic mutation in chromosome 19 (19q13.2-13.3), resulting from the expansion of triplet repeat, with a prevalence of 1 in 8000 live births. This is a severe neurodegenerative disorder chalacterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, and cardiac arryth-mias. As mentioned in Chapter 3, DM was one of the most frequent indications for PGD, which also provided the possibility for obtaining affected embryos for the establishment of the ES cell lines with DMPK. One of the PGD cycles for the maternally derived mutation is presented in Figure 7.7, showing the results of blastomere biopsy of six embryos, which resulted in the transfer of two mutation-free embryos (embryos#5 and 7). Two of the remaining four embryos were with aneuploidies, monosomy 16 in embryo #8 and monosomy 22 in embryo #10, and two affected embryos were donated for research and resulted in the establishment of two embryonic stem cell lines, hESC-148 and hESC-153.

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