Among patients with non-small cell lung cancer (NSCLC) fueled by ALK
gene alterations who were being treated with crizotinib (Xalkori), a decrease in the number of circulating tumor cells (CTCs) harboring increased copies of the ALK gene over the first two months of treatment was associated with increased progression - free survival.
The researchers performed the studies using mice bred to carry
gene alterations that disrupt the production of the same mitochondrial enzyme that is defective in patients with MMA.
They simply used the jellyfish gene, which is easily detected, to test whether inserting foreign genes into eggs (so - called germline
gene alteration) can produce viable monkeys.
Along with differences in
gene alterations, bladder cancer patients also show differences in how well they respond to certain therapies.
Independent identification of ERBB2
gene alterations was completed and frequency of that alteration, as well as others in the PTEN, PIK3CA and TP53 genes, were determined.
Several common single -
gene alterations have been observed in glioblastoma.
Now any single
gene alteration is a viable place to start experimenting.
I believe there are three highlights: frequent
gene alterations in TNBC, under - representation of mutations in mRNA sequences, and a continuous distribution of mutation frequencies within tumors.
The researchers used gene - sequencing technology to determine the most common
gene alterations associated with the cancers and then used their test to find and extract from the fluid cancer the DNA specific to each cancer.
Exome sequencing alone detected driver
gene alterations in 26 % of tumors, compared to 72 % by genome sequencing.
Gene Alterations Linked to Poor Outcomes in A Pediatric Cancer A survey of the neuroblastoma cancer genome revealed alterations in two genes, ARID1A and ARID1B, associated with a poor prognosis.
In 2002, they discovered that
the gene alteration makes brain cancer cells more responsive to anticancer drugs known as alkylating agents.
Not exact matches
Because
gene drives can pass such changes down from one generation to the next, each potential
alteration in the code of life could have a lasting and unknowable effect.
«Epigenetic marks are physical
alterations to the DNA that do not change the sequence of a
gene, and thus have the potential to be reversed,» said Hurd.
Now, a new study probing so - called noncoding DNA has found that
alterations in regions that regulate
gene activity may also contribute to autism.
In 1986 my research group at the Rockefeller University and another led by Jeffrey Hall of Brandeis University and Michael Rosbash of the Howard Hughes Medical Institute at Brandeis found that the three mutant flies had three different
alterations in a single
gene named period, or per, which each of our teams had independently isolated two years earlier.
Now, new research suggests changes at the epigenetic level — specifically
alterations in proteins that affect
gene expression, rather than genetic mutations — could be driving childhood ependymomas.
The last piece of evidence together with the fact that the parents do not carry the
alterations suggest that the extra copies of
genes may have occurred either in the sperm or the egg, the parent's germ cells, and before or very early after fertilization.
This was reflected in subtle DNA changes in an epigenetic
gene that governs the stress response: Children whose fathers were survivors had greater genetic
alterations in the GR - 1 promoter, a tiny spigot that normally dampens
genes that shut down the stress response.
«Fibroblast growth factor receptor inhibitors are new therapies being developed in clinical trials for patients whose cancer cells have genetic
alterations in this family of
genes,» says Roychowdhury, a member of the OSUCCC — James Translational Therapeutics Program.
In these canine cells we induced a morphological change similar to what happens in cancer progression and we have seen displayed significant
alterations in the modulation of
genes, called epigenetic lesions,» says Manel Esteller.
The
alterations in the BRCA1
gene, described in the November issue of Nature Genetics, could account for up to a third of BRCA1 - related breast cancer cases in some European populations.
A team of 18 University of California San Diego School of Medicine and Moores Cancer Center researchers has developed a new tool to analyze an often overlooked aspect of cancer genetics — an
alteration that results in the loss or gain in a copy of a
gene.
«
Gene mutations behind lack of a nose identified: Alterations in same gene previously associated with rare form of muscular dystrophy.&ra
Gene mutations behind lack of a nose identified:
Alterations in same
gene previously associated with rare form of muscular dystrophy.&ra
gene previously associated with rare form of muscular dystrophy.»
Parkinson contends that targeted
gene replacement produces cells having specific genetic
alterations far more effectively than the traditional technique for making transgenic animals, which entails injecting DNA into cell nuclei.
The article also points out that the epitranscriptome could be altered in some human diseases, while
alterations in
genes responsible for cancer are also being discovered.
For instance,
alterations to these chemical switches can change the architecture of the heterochromatin, causing
genes to be expressed or silenced.
The trio concluded that the
gene was an indivisible physicochemical unit of molecular size, and they proposed that a mutation involved the
alteration of a chemical bond in that molecule.
Previous studies of genetic
alterations in lymphoma and lung cancer have found that certain genetic mutations — specifically when part of a
gene breaks off and gets fused to another — can inappropriately switch on ALK, driving cancer cells to grow and divide.
«Epigenetic
alteration of a vitamin B12
gene shines new light on our understanding of rare diseases.»
Gene editing, or tweaking the human genome with additions, subtractions or
alterations, is becoming increasingly realistic with modern technologies.
«We knew this
gene's
alteration likely contributed to schizophrenia and we wanted to better understand how,» said Mei, chairman of the Department of Neuroscience and Regenerative Medicine at the Medical College of Georgia at Augusta University, Georgia Research Alliance Eminent Scholar in Neuroscience and a corresponding author of the study in the journal PNAS.
Later in life the genetic material can be changed by epigenetic modifications, i.e. chemical
alterations of the DNA the affect the activity of the
genes.
Until now, de novo genetic mutations,
alterations in a
gene found for the first time in one family member, were believed to be mainly the result of new mutations in the sperm or eggs (germline) of one of the parents and passed on to their child.
This epigenetic
alteration of
gene activity in brain cells that receive this neurotransmitter showed for the first time that dopamine deficiencies can affect a variety of behavioral and physiological functions regulated in the prefrontal cortex.
To confirm and strengthen the findings, Zwick and his team are currently performing an independent study of individuals with Down syndrome, using whole genome sequencing to further delineate
alterations in
genes that perturb heart development in children.
It would be strange, says Chesser, «for us to have stumbled upon the only
gene showing this kind of
alteration».
The
gene's fall from leadership is the result of geneticists» growing attention to epigenetics — a form of genetic change that is essentially the
gene's way of responding to its surroundings but which does not involve
alterations in the
gene's DNA.
They also collected DNA to study epigenetics — changes in the activity of how a
gene is expressed through environmental experiences, rather than
alteration of the genetic code itself.
Publishing in Nature, the study reports that genetic
alterations affecting a part of the PD - L1
gene increases the production of the protein, allowing cancer cells to escape detection by the immune system.
A strong, male - biased mutation spectrum was also measured, wherein three - quarters of mutations occurred in sperm thorough spermatogenesis, as well as new structural
alterations, such as changes in
gene conversion and copy number.
Publishing in Nature, a recent study reports that genetic
alterations affecting a part of the PD - L1
gene increases the production of the protein, allowing cancer cells to escape detection by the immune system.
Building on this concept, Sushant Patkar of the University of Maryland and colleagues hypothesized that
alterations in protein interaction networks in breast cancer cells may change the function of individual
genes.
«Some of these
genes were either increased or decreased in the area of the tumour, no matter the type of breast cancer, and this is important because within the patterns we identified were predictable
alterations.
Yet the vast majority of genomic
alterations associated with cancer lie outside protein - coding
genes, in what traditionally has been derided as «junk DNA.»
According to the study, these modifications specifically mark highly expressed
genes and their presence changes upon metabolic
alterations, for example upon fasting.
But in
genes, differences as small as a point mutation — the
alteration of a single base pair — can lead to disease.
«Small
alterations on these histones act as a molecular switch to turn certain
genes on and others off,» Thomas said.
Douglas Thomas, associate professor of medicinal chemistry and pharmacognosy at UIC, and co-workers discovered that nitric oxide plays an important role in epigenetics — heritable
alterations in
gene expression caused by mechanisms other than changes in DNA sequence.
Right now, there is no specific treatment for cancers harboring LKB1 or DIXDC1
alterations, but those with a deletion of either
gene would likely see results from cancer drugs that target the focal adhesions, says Shaw.