A null mutation in the human CNTF gene is not causally related to neurological diseases

@article{Takahashi1994ANM,
  title={A null mutation in the human CNTF gene is not causally related to neurological diseases},
  author={Ryosuke Takahashi and Hidehiro Yokoji and Hidemi Misawa and Michiyuki Hayashi and Jianguo Hu and Takeo Deguchi},
  journal={Nature Genetics},
  year={1994},
  volume={7},
  pages={79-84}
}
We report a null mutation in the human ciliary neurotrophic factor gene (CNTF). The mutated allele shows a G to A transition producing a new splice acceptor site and the resulting mRNA species codes for an aberrant protein. Analysis of tissue samples and transfection of CNTF minigenes into cultured cells demonstrates that the mutated allele expresses only the mutated mRNA species. In 391 Japanese people tested, 61.9% were normal homozygotes, 35.8% heterozygotes and 2.3% mutant homozygotes. The… 
Association between a null mutation in the human ciliary neurotrophic factor (CNTF) gene and increased incidence of psychiatric diseases?
TLDR
The frequency of the mutant allele was higher among psychiatric patients than among healthy controls and neurological patients, suggesting disturbances in the neurotrophic factor system could play a crucial role in the etiopathogenesis of psychiatric disorders, mainly psychoses.
Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease
The frequency of a recently described point mutation of the ciliary neurotrophic factor (CNTF) gene was investigated in a population of 154 German patients with motor neuron disease (MND). Twenty‐two
Association of a null mutation in the CNTF gene with early onset of multiple sclerosis.
TLDR
The results suggest that CNTF contributes to time and site of early clinical manifestation of multiple sclerosis, and the frequency of patients with MS with a homozygous CNTF null mutation in this population was not higher than in control groups, indicating that the CNTFnull mutation is not a risk factor for development of MS.
Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
TLDR
There was no difference in age of onset, clinical presentation, rate of progression, or disease duration for those with one or two copies of the null allele in ALS, excluding CNTF as a major disease modifier in ALS.
A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibility and disease severity in patients with multiple sclerosis
TLDR
It is concluded that the requirement for CNTF in myelogenesis or cell survival may be bypassed by a second ligand or redundancy of functional activity of other neurotrophic factors.
Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males
TLDR
The CNTF G>A null mutation therefore confers a moderate effect on obesity in males of A/A genotype, who represent 1% of the general population.
...
...

References

SHOWING 1-10 OF 44 REFERENCES
Cloning and expression of human ciliary neurotrophic factor.
TLDR
The cloning of the entire genomic sequence encoding human CNTF and its primary structure is reported, providing a basis for understanding the role of CNTF in nervous system physiology and pathology.
Recombinant Human and Rat Ciliary Neurotrophic Factors
TLDR
The human ciliary neurotrophic factor (CNTF) gene was identified and cloned, based on homology with the recently cloned rat cDNA, and appears to contain a single intron separating two protein coding exons.
Disruption of the CNTF gene results in motor neuron degeneration
TLDR
It is reported that abolition of CNTF gene expression by homologous recombination results in a progressive atrophy and loss of motor neurons in adult mice, which is functionally reflected by a small but significant reduction in muscle strength.
Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy
TLDR
CNTF greatly reduces all the functional and morphological changes in pmn/pmn mice, an autosomal recessive mutant leading to progressive caudo-cranial motor neuron degeneration, and gives new perspectives for the treatment of human degenerative motor neuron diseases with CNTF.
Regional distribution, developmental changes, and cellular localization of CNTF-mRNA and protein in the rat brain
TLDR
It is demonstrated that the time course of the expression ofCNTF-mRNA and protein in the rat optic nerve is compatible with such a glial differentiation function of CNTF in vivo, and it is shown that the type 2 astrocyte-inducing activity previously demonstrated in optic nerve extract can be precipitated by an antiserum against CNTF.
Molecular cloning, expression and regional distribution of rat ciliary neurotrophic factor
TLDR
The complementary DNA-deduced amino-acid sequence and subsequent expression of cDNA clones covering the entire coding region in HeLa-cells indicate that CNTF is a cytosolic protein, and shows thatCNTF is not a target-derived neurotrophic factor.
...
...