«If we can define
which types of mutations and changes are the critical events driving tumor growth, we will be better equipped to identify the most appropriate treatments for individual cancers.»
Not exact matches
Using several techniques to gauge the effects
of these
mutations,
which are the most common
type of variant in the human genome, Akey estimated that more than 80 percent are probably harmful to us.
Researchers have discovered that a hereditary
mutation in gene ENPP1 contributes to obesity in children and early onset
of type II diabetes, both
of which carry severe health risks.
This is important because the proportion in
which the de novo
mutation is present in a patient, as well as the
type of cells in
which it occurs, may not only determine the clinical outcome
of a disease for the patient, but also affect the risk
of the parents having another child with the same disease in future pregnancies.
Tumours
which carry
mutations in KRAS genes (40 %
of CCR) or BRAF genes (between 5 and 15 %
of these
types of cancers) are ineffectively treated and have poor prognosis.
Gene
mutations involved in enamel mineralization through the CRAC channels were first seen in people with a
type of severe combined immunodeficiency, a disorder in
which — among other symptoms — tooth enamel may fall off the teeth within five or six years after birth, and the dentine becomes exposed.
The researchers studied a form
of the condition called Charcot - Marie - Tooth disease
type 2A,
which is caused by specific genetic
mutations.
However, genetic
mutations in a gene called mixed lineage leukemia, or MLL, lead to an aggressive subtype
of B - ALL known as MLL - rearranged,
which is the most common
type of acute lymphoblastic leukemia in infants.
The kitten was found to have two copies
of a
mutation in the NPC1 gene,
which causes Niemman - Pick
type 1, a fatal disorder.
These are two pathways that are very commonly mutated in human tumors, and we try to understand where those pathways are mutated,
which type of tumors, what are the
mutations that co-occur with
mutations in those pathways; and try to understand, if we try to inhibit those pathways, what can we expect in patients.
The study focuses exclusively on the
type of evolution known as purifying selection,
which favors
mutations that have no or only a small effect in a fixed environment.
But in 2010, Stephen Rossiter, an evolutionary biologist at Queen Mary, University
of London, and his colleagues determined that both
types of echolocating bats, as well as dolphins, had the same
mutations in a particular protein called prestin,
which affects the sensitivity
of hearing.
The findings,
which were published online in the journal Cancer Cell, could ultimately lead to new targeted therapies for many other
types of cancer carrying similar p53
mutations.
With the help
of modern genetic technology and the resources
of the International Rice GeneBank,
which contains more than 112,000 different
types of rice, evolutionary biologist Kenneth Olsen, PhD, associate professor
of biology in Arts & Sciences at Washington University in St. Louis, has been able to look back in time and ask whether the same
mutations underlay the emergence
of the same traits in both cultivated and weedy rice.
People who inherit p53
mutations develop a rare disorder called Li - Fraumeni Syndrome,
which confers a near 100 percent risk
of developing cancer in a wide range
of tissue
types.
Although BRAF gene fusions were well known to be involved in PLGGs, the study team found important differences in a related gene, CRAF, in
which mutations can also lead to this
type of glioma.
All these
mutations hit the coding part
of genes, but there are other
types of mutations that the teams can not yet detect using current technology,
which is why the 30 % is a conservative estimate.
Most
of these «familial» cases have been linked to
mutations in a gene called BMPR2 (bone morphogenetic protein receptor,
type II),
which was identified simultaneously in 2000 by two independent research teams, one led by the late Robin Barst and Jane Morse, CUMC researchers.
Cells
of the latter cancer
types contain many DNA
mutations,
which are thought to make distinctive «neoantigens» that help the patient's immune system recognize and attack tumors, and make the cancer cells» «microenvironment» hospitable to tumor - fighting T cells.
A
mutation in the gene encoding fibroblast growth factor receptor 3 (FGFR3) has been associated with two
types of skeletal dysplasia, thanatophoric dysplasia (TD), a skeletal dysplasia that cause serious respiratory problems at birth and is often lethal, and achondroplasia (ACH),
which causes stunted growth and other complications throughout life.
Mutations in the protein, otoferlin, are linked to severe congenital hearing loss, a common
type of deafness in
which patients can hear almost nothing.
But sometimes what we inherit remains hidden, like BRCA gene
mutations which can increase your risk for developing certain
type of cancers.
Dr. Eng and team create scoring system to facilitate identifying individuals to be referred to PTEN gene testing Researchers have discovered a method for more precise identification
of individuals who should undergo testing for genetic
mutations of the tumor suppressor gene PTEN,
which associates with a variety
of conditions including several
types of cancers.
Dr. Sotos» hypothesis is that Lincoln had MEN 2B (a
type of multiple endocrine neoplasia (MEN) caused by RET
mutations) instead
of Marfan syndrome,
which has been postulated in the past.
By replacing a relatively large region
of DNA, the technique allows the scientists to fix many gene
mutations at once,
which suggests the method might provide a way to treat hundreds
of types of HBB - related diseases.
Mutations also may be inherited, such as those in the BRCA gene,
which increases a person's risk for some
types of cancer.
Using genomics approaches, Dr. Nobrega has identified the gene IRX3 as the strongest association to polygenic obesity in humans, and characterized the mechanisms by
which mutations altering the expression
of a gene called TCF7L2 also represent the strongest genetic link to
type 2 diabetes in humans.
Researchers at Karolinska Institutet, KI, and SciLifeLab have together with colleagues in USA identified
mutations in blood,
which considerably increases the risk
of developing various
types of blood cancer, like leukaemia.
The Cancer Genome Atlas, an organization that hopes to sequence many
types of cancer, led the mapping using massively parallel sequencing,
which compares normal and cancer DNA and looks for
mutations [source: Kushnerov].
All these
mutations hit the coding part
of genes, but there are other
types of de novo
mutations that the team can not yet detect using current technology,
which is why 30 % is a conservative estimate.
However, one study
which analyzed data from humans and genetically modified mice suggested that the LYP variant associated with
type 1 diabetes is a loss -
of - function
mutation that reduces LYP activity.
The ViroChip microarray [2], [3], [44], [45] was used to screen RNA samples isolated from prostate tumors collected prospectively from 39 individuals,
of which 16 individuals were genotyped as harboring the R462Q RNAse L
mutation (QQ), 10 individuals were heterozygous cases (RQ), and 13 were wild -
type cases (RR).
By assessing the incidence
of a particular
mutation or the frequency at
which certain genes / pathways are altered across multiple patients (
of the same tumor
type), it should be possible to identify key
mutations.
Whole genome sequence data
of the mutants with altered cell shape, directed mutants, wild
type stocks and isolated helical and rod - shaped «wild
type» C. jejuni, identified a number
of different
mutations in pgp1 and pgp2,
which result in a change in helical to rod bacterial cell shape.
This
type of congenital heart defect can be caused by a
mutation in the gene TBX5,
which is one
of the genes essential for heart development.
The new Science study focused on the K36
mutation,
which blocks the specialization in the
type of stem cell that can form cartilage, bone and fat.
This provided the mechanism by
which bacteria acquire immunity to specific viral infections, allowed introduction
of specific
mutations at desired sites, and provided the means to transfer efficient Cas9 - directed break, repair, and editing to any cell
type.
Single amino acid
mutations in mTOR are found in several
types of human cancers,
which confer constitutive activation
of this autophagy negative regulator [10,11].
The Cancer Gene Census (CGC) database contains 547 such gene across various cancer
types.5 Remarkably, few driver genes having specific point
mutations appear to be sufficient to rewire signalling networks in cancer, 1
which at the same time shows that — at least from the mutational side — cancer does not consist
of an «infinite» number
of different diseases, and in many cases treatment options targeted against driver genes might be transferred from one case to the next.
X-rays and gamma rays are two other
types of radiation — both
of which are found naturally and in man - made devices like imaging tests, scanners, and certain power plants — that can cause DNA
mutations,
which may lead to cancer in the future.
PKU is caused by a
mutation that is located on chromosome 12, although the specific
type of mutation may vary,
which results in severity that is variable among those with the PKU disorder.
Familial medullary thyroid cancer,
which is a rare
type of thyroid cancer, is caused by an inherited
mutation in the RET proto - oncogene.
The scientists are also continuing to investigate
mutations that occur in the tumors themselves (somatic
mutations) and are profiling the susceptibility
of specific tumor
types to various chemotherapy compounds,
which may lead to improved therapy options.
Dogs affected with
Type I vWD have a
mutation which allows normal vWF to be produced part
of the time, so even dogs with two copies
of the defective gene (affected dogs) have some minimal amount
of normal vWF.
Evidence suggests that
Type A PRA is in fact a rare form
of PRA in the Miniature Schnauzer and that other, genetically distinct forms
of PRA segregate within the breed, for
which the
mutations have yet to be identified [14].
The canine ADAMTS17 splice site
mutation is shared by at least 17 different breeds, many
of which are terriers or terrier -
type breeds, but some
of which have more diverse origins [132].
Achromatopsia
type 2 - LR is inherited as an autosomal recessive trait,
which means that only dogs that have inherited two copies
of the CNGA3
mutation (one from each parent) will develop this form
of ACHM.
Many
types of phytoplankton do increase their numbers rapidly but they propagate primarily by asexual reproduction,
which makes it less likely for populations to accumulate the genetic
mutations that could allow them to adapt.
Research into emission mixes is made easier by new
types of arrangements for experiments in
which emission sources and the
mutation chamber are located close to each other, as is the case in the ILMARI research unit
of the University
of Eastern Finland.
Fathers may have heritable physiological impacts on their children via genetic and epigenetic mechanisms that begin to emerge shortly after conception12 and
which may influence maternal investment during pregnancy.13 Older fathers tend to transmit more
mutations to their offspring, 14 while early childhood paternal stressors predict children's adolescent gene methylation patterns (a
type of chemical modification
of DNA).15