CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

Mutation analysis ofCHCHD10in different neurodegenerative diseases

“…It is conceivable that other proteins structurally similar to CHCHD10 could also contribute to neurodegenerative disorders. In agreement with such a possibility, mutations in CHCHD2 were recently reported to cause Parkinson's disease in Japanese patients (Funayama et al, 2015). …”

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease

“…Indeed, bioinformatic analyses of natural variations in 248 human gene expression suggest that CHCHD2 is implicated in the mitochondrial protein 249 translation [103]. Missense mutations in CHCHD2 are associated with autosomal dominant 250 late-onset Parkinson's disease [104] ( Table 2). The disease-associated mutations in CHCHD2 251 and CHCHD10 do not affect their C-terminal (CX 9 C) 2 motifs and are rather clustered in an 252 internal evolutionary-conserved domain that they share with their yeast ancestor Mix17 253…”

CHCHD2 and Parkinson's disease

“…2,3 They also found the same mutation (182C>T, Thr61Ile) in another family with autosomal dominant Parkinson's disease; the mutation was detected not only in a man with familial disease but also in his brother, who had developed fine tremor at age 10, but had no Parkinsonism at 50 years of age. 1 On the basis of this finding, Funayama and colleagues suggested that a CHCHD2 mutation might also be the genetic cause in the Arkansas family that we have followed longitudinally and have described previously. 4 The family is large, with affected individuals in six …”