The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
London, United Kingdom. In Mov Disord, 2013
The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome).
Nuclear factors: roles related to mitochondrial deafness.
Hangzhou, China. In Gene, 2013
OPA1, TIMM8A, SMAC/DIABLO, MPV17, PDSS1, BCS1L, SUCLA2, C10ORF2, COX10, PLOG1and RRM2B are deafness-causing genes.
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Bologna, Italy. In Biochim Biophys Acta, 2009
We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).
Mitochondria as the target of the pro-apoptotic protein Bax.
Nantes, France. In Biochim Biophys Acta, 2006
During apoptosis, engagement of the mitochondrial pathway involves the permeabilization of the outer mitochondrial membrane (OMM), which leads to the release of cytochrome c and other apoptogenic proteins such as Smac/DIABLO, AIF, EndoG, Omi/HtraA2 and DDP/TIMM8a.
Heterochromatin: RNA points the way.
Columbia, United States. In Curr Biol, 2004
Mutation of the multi-KH domain protein DPP1, which has single-stranded nucleic acid binding activity, suppresses heterochromatin-mediated silencing in Drosophila; it also disrupts the modification of histone H3 at lysine 9, and association of heterochromatin protein 1 on the heterochromatic regions, suggesting a role for DDP1 in heterochromatin formation.
Deafness-Dystonia-Optic Neuronopathy Syndrome
Seattle, United States. In Unknown Journal, 2003
DIAGNOSIS/TESTING: DDON syndrome occurs as either a single-gene disorder resulting from mutation in TIMM8A or a contiguous gene deletion syndrome at Xq22, which also includes X-linked agammaglobulinemia caused by disruption of BTK, located telomeric to TIMM8A.