bims-cytox1 2018-07-08 papers

Issue of 2018–07–08
three papers selected by
Gavin McStay, Staffordshire University

Stem Cell Res. 2018 May 28. pii: S1873-5061(18)30129-6. [Epub ahead of print]30 201-205

Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA.

Shih-Jie Chou, Yu-Ling Ko, Yu-Hsuan Yang, Aliaksandr A Yarmishyn, Yu-Ting Wu, Chien-Tsun Chen, Hsin-Chen Lee, Yau-Huei Wei, Shih-Hwa Chiou.

MERRF syndrome is predominantly caused by A8344G mutation in the mitochondrial DNA (mtDNA), affecting MT-TK gene, which impairs the mitochondrial electron transport chain function. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines, TVGH-iPSC-MRF-Mlow and TVGH-iPSC-MRF-Mhigh, from the skin fibroblasts of a female MERRF patient harboring mtDNA A8344G mutation by using retrovirus transduction system. Both cell lines share the same genetic background except containing different proportions of mtDNA with the A8344G mutation. Both cell lines exhibited the pluripotency and capacity to differentiate into three germ layers.

DOI: https://doi.org/10.1016/j.scr.2018.05.011

J Clin Pathol. 2018 Jun 30. pii: jclinpath-2018-205211. [Epub ahead of print]

A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis.

Hiromasa Sakamoto, Toshinari Yamasaki, Takayuki Sumiyoshi, Noriaki Utsunomiya, Masashi Takeda, Tomomi Kamba, Eijiro Nakamura, Osamu Ogawa.

AIM: We examined the genetic alterations in a mother and son with multiple eosinophilic chromophobe renal cell carcinomas (chRCCs) showing no other features.
METHODS: Germline DNA and bilateral renal cell carcinoma DNA were genetically analysed by whole-exome sequencing. Candidate gene alterations in the first patient's germline were investigated in her child's germline and the chRCCs.
RESULTS: We detected several germline gene alterations in the mother. Among the identified alterations, TSC1 and mitochondrial DNA mutations were also confirmed in her son. Regarding somatic alterations in bilateral chRCCs, no common candidate gene alteration was found.
CONCLUSION: To the best of our knowledge, this is the first report of whole-exome sequencing revealing bilateral eosinophilic chRCCs associated with tuberous sclerosis complex in a family case without classical phenotype. These results suggest that germline TSC1 and mitochondrial DNA gene mutations may be involved in the development of chRCCs in some cases.

Keywords: cancer genetics; genitourinary pathology; renal cancer

DOI: https://doi.org/10.1136/jclinpath-2018-205211

Methods Mol Biol. 2018 ;1818 31-36

Pronuclear Transfer in Human Oocytes.

Louise Hyslop.

The method described is for early pronuclear transfer (PNT) in normally fertilized human eggs. The PNT procedure should be performed shortly after the appearance of the two pronuclei. Each pronucleus is pinched off with a minimal amount of surrounding cytoplasm to form a membrane enclosed karyoplast. The karyoplasts are then fused with a fertilized egg which has had its pronuclei removed. An experienced individual will achieve approximately 90% survival of the fertilized eggs manipulated.

Keywords: Fertilized egg; Karyoplast; Mitochondrial DNA (mtDNA); Pronuclear transfer (PNT); Pronuclei

DOI: https://doi.org/10.1007/978-1-4939-8603-3_4