Several neurodegenerative diseases are associated with variants in human CHCHD2 and CHCHD10; these genes encode small mitochondrial proteins involved in the maintenance of mitochondrial organization and response to oxygen stress. See links in 'Related Diseases' for information on specific diseases associated with CHCHD2 and CHCHD10.
In Drosophila, there is one high-scoring ortholog of CHCHD2 and CHCHD10, Dmel\Chchd2. Loss-of-function mutations, RNAi targeting constructs, alleles caused by insertional mutagenesis, and an amorphic allele created by targeted recombination have been generated for Chchd2.
Variants implicated in disease in human have been characterized in flies, using the fly gene with the analogous change. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): K164Q in the fly Chchd2 gene (corresponds to R145Q in the human CHCHD2 gene, implicated in PD22, see FBhh0000606); G88V in the fly Chchd2 gene (corresponds to G66V in the human CHCHD10 gene, implicated in SMAJ, see FBhh0001228); S81L in the fly Chchd2 gene (corresponds to S59L in the human CHCHD10 gene, implicated in FTDALS2, see FBhh0001227).
Loss of Dmel\Chchd2 function results in mitochondrial and neuronal phenotypes, including increased sensitivity to oxidative stress, progressive dopaminergic neuron loss and progressive locomotor dysfunction. Genetic interactions have been described for Chchd2; see the Chchd2 gene report.
[updated Jul. 2020 by FlyBase; FBrf0222196]
High-scoring ortholog of human CHCHD2 and CHCH10 (3 Drosophila to 2 human). Dmel\Chchd2 shares 44-50% identity and 54-58% similarity with the human genes.
