Riken Corporation

The Institute of Physical and Chemical Research

National Center or Neurology and Psychiatry

Feng Ling

Takehiko Shibata

Minoru Yoshida

Fusao Makishima

Yu-ichi Goto

Rong Niu

A method includes providing a eukaryotic cell including mutant mtDNA in which there is at least one mutation in the mtDNA, allowing the cell to come into contact with an active oxygen species or a chemical species that generates such an active oxygen species in the cell (e.g., hydrogen peroxide) and thereby changing the percentage of mutant mtDNA (mitochondrial genomic DNA) in the cell as a result of the contact. Also featured are cells obtained by the above-described method.

Method for generating homoplasmic cells from heteroplasmic cells

A multi-step method of detecting a gene in a nuclear chromosome which is involved in mitochondrial recombination is disclosed. The method disclosed includes the steps: a) fusing enucleated .omega..sup.- mitochondrial donor cells expressing a first marker gene with nucleus-containing .omega..sup.+ mitochondrial recipient cells expressing a second marker gene different from the first marker gene to form fused cells wherein the fused cells have one type of mitochondria and b) selecting fused cells that are .omega..sup.+ and express the first and second marker genes to identify those enucleated .omega..sup.- mitochondrial donor cells with a reduced recombination frequency. The method includes the further steps of judging that the gene in a nuclear chromosome of the recipient cells involved in mitochondrial recombination is normal when the mitochondrial recombination frequency is high or that the gene is mutated when the recombination frequency is low. The judging steps permit the detection of a mutant gene in a nuclear chromosome of the recipient cells used for cell fusion. An isolated mhr1 and MHR1 gene coding for a polypeptide is also disclosed.

Mutant gene causing a defect in mitochondrial recombination and a method

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Wako, Japan

Feng Ling