There are often modifier genes
and genes that require environmental influences to become apparent.
Different mutations of CYP1B1 were found and suggested a similar role of modifier genes
or environmental factors which caused the variability in the phenotype due to CYP1B1 mutations as suggested previously.
The researchers note that only a few modifier genes
of disease mutations such as Ankrd16 have been identified and a modifier-based mechanism for understanding the underlying pathology of neurodegenerative diseases may be a promising route to understand disease development.
They also noted that only a few modifier genes
of disease mutations such as 'Ankrd16' have been identified
In this study, we aimed to identify pathogenic and relevant modifier genes
associated with familial AE.
In mouse studies seeking to identify Alzheimer's disease modifier genes
, ModGene demonstrated that the level of expression of the Presenilin2 gene by the liver regulates the accumulation of pathogenic concentrations of Alzheimer's disease-initiating amyloid-?
Some factors such as a second hit and modifier genes
might underlie the variable expression of NF1 within the members of this family.[sup],
Axenfeld-Rieger syndrome is a rare autosomal dominant disorder where phenotypes of the same mutation are variable; this is likely to be caused by environmental factors and/or modifier genes
It involves dealing with three distinct genetic systems; the recessive mutant alleles of opaque and floury genes being the first, second being alleles of endosperm hardness modifier genes
(en- modifiers) and third being a distinct set of amino acid modifier genes
(aa-modifiers) (Krivanek et al., 2006).Therefore, knowledge about the nature of the gene action is essential for maize breeders enabling them to optimize their breeding programs better.
Combining their vast resources in PD and our capabilities in research and clinical development, we believe we can make important advances in understanding and ultimately discovering new treatment approaches for this devastating disease." The multiyear collaboration includes an array of PD-related activities designed to drive advances in basic science and treatment, including discovery of gene targets and modifier genes
that might serve as novel therapeutic targets; creation of well-defined, patient-derived induced pluripotent stem cells (iPSC); a study of gasbointestinal symptoms related to PD; a search for quantitative and symptom-based trial endpoints; and the potential identification of new therapeutic approval pathways.
The collaboration includes an array of PD-related activities designed to drive advances in basic science and treatment including, discovery of gene targets and modifier genes
that might serve as novel therapeutic targets; the creation of well-defined patient-derived induced pluripotent stem cells (iPSC); a study of gastrointestinal symptoms related to PD; a search for quantitative and symptom-based trial endpoints; as well as the potential identification of new therapeutic approval pathways.