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Proteomic analysis of mitochondria from Huntington's Disease patient iPSC-derived neurons

ABSTRACT: Huntington's disease is caused by an expanded CAG repeat in the huntingtin gene, yeilding a Huntingtin protein with an expanded polyglutamine tract. Patient-derived induced pluripotent stem cells (iPSCs) can help understand disease; however, defining pathological biomarkers in challanging. Here we used LC-MS/MS to determine differences in mitochondrial proteome between iPSC-derived neurons from healthy donors and Huntington's disease patients.

INSTRUMENT(S): LTQ Orbitrap Elite

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture

SUBMITTER: Ranen Aviner

LAB HEAD: Ranen Aviner

PROVIDER: PXD037526 | Pride | 2023-02-10

REPOSITORIES: Pride

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CryoET reveals organelle phenotypes in huntington disease patient iPSC-derived and mouse primary neurons.

Wu Gong-Her GH Smith-Geater Charlene C Galaz-Montoya Jesús G JG Gu Yingli Y Gupte Sanket R SR Aviner Ranen R Mitchell Patrick G PG Hsu Joy J Miramontes Ricardo R Wang Keona Q KQ Geller Nicolette R NR Hou Cathy C Danita Cristina C Joubert Lydia-Marie LM Schmid Michael F MF Yeung Serena S Frydman Judith J Mobley William W Wu Chengbiao C Thompson Leslie M LM Chiu Wah W

Nature communications 20230208 1

Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin gene, yielding a Huntingtin protein with an expanded polyglutamine tract. While experiments with patient-derived induced pluripotent stem cells (iPSCs) can help understand disease, defining pathological biomarkers remains challenging. Here, we used cryogenic electron tomography to visualize neurites in HD patient iPSC-derived neurons with varying CAG repeats, and primary cortical neurons from BACHD, deltaN17-BACHD, a ...[more]

PMID: 36754966

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