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The Metabolic and Molecular Basis of Inherited Disease: Protein Folding and Misfolding: the Role of Cellular Protein Quality Control Systems in Inherited Disorders
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder.
[Myalgic encephalomyelitis or chronic fatigue syndrome].
Over the last decades, research has demonstrated mitochondrial, neuroendocrine, immuno-logical, and metabolic perturbations in patients with ME/CFS, giving hope for the development of new biomarkers and new treatment modalities.
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated…
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
A clear relationship between the nature of the mutation and the severity of disease is shown, in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established.
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies, and it is hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sar Comere to the surrounding syncytium lead to IDC.
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency
- R. Olsen, B. Andresen, E. Christensen, P. Bross, F. Skovby, N. Gregersen
- Medicine, BiologyHuman mutation
- 1 July 2003
Interestingly, the data suggest that homozygosity for two null mutations causes fetal development of congenital anomalies resulting in a type I disease phenotype, indicating that the effect of the ETF/ETFDH genotype in patients with milder forms of MADD, in whom residual enzyme activity allows modulation of the enzymatic phenotype, may be influenced by environmental factors like cellular temperature.
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and…
The mutation analysis shows that the MS/MS-based method is excellent for detection of MCAD deficiency but that the frequency of the 985A-->G mutant allele in newborns with a positive acylcarnitine profile is much lower than that observed in clinically affected patients.
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl‐CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship
It is proposed that the unraveling of the genetic and cellular determinants of the modulating effects of protein quality control systems may help to assess the balance between genetic and environmental factors in the clinical expression of a given mutation.
One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.
It is suggested that the core sequence stimulates recombination and may thereby cause the frequent involvement of Alu elements in gene rearrangements.