Dr. Tove Fall, lead study researcher at the Department of Medical Sciences and the Science for Life Laboratory at Uppsala University commented, «We knew already that obesity and cardiovascular disease often occur together... in this study we found that
individuals with gene variants that lead to increased body - mass index also had an increased risk of heart failure and diabetes.»
In
individuals with the gene, those who exercised showed greater brain activity in memory - related areas compared to sedentary individuals.
Individuals with the gene who were physically active had greater brain activity compared to individuals who were not gene carriers and physically active.
In this study we found that
individuals with gene variants that lead to increased body - mass index (BMI) also had an increased risk of heart failure and diabetes.
One abnormality that really stood out, and it was present in all 15 patients: a piece of DNA that had been broken and rejoined, creating a mutated gene that had the potential to wreak havoc in the bodies of
individuals with the gene.
«This report helps shed light on what can go wrong in
individuals with genes that make one susceptible to autoimmune disease.
«Screening for these genes also would give these families potentially life - saving information to prevent colon cancer by encouraging
individuals with the genes to increase the frequency of their colonoscopies.»
In the first study, the researchers have used technologies at the SNP&SEQ Technology Platform at SciLifeLab to compare genes from healthy dog
individuals with genes from individuals with breast cancer.
Not exact matches
These
genes are implicated in highly penetrant genetic disorders for which surgical or other interventions aimed at preventing or significantly reducing morbidity and mortality are available to pathogenic variant carriers.5 Identification of a pathogenic variant in one of these
genes could be diagnostic of a medical condition
with potential implications for an
individual's medical management.
Ever hear of mendle, or genetic engineering or really anything have to do
with genes and dna and how dna from two
individuals helps create a third
with genetic traits inherited from both sets of dna either as dominant or recessive.
The issue should be understood as «which is more important, the
individual replicator (the
gene), or the patterns generated by interactions of a myriad of replicators
with a complex environment?»
But lest you think those who lack the «happy marriage»
gene are doomed to a life of perpetual divorce, researchers suggest that these
individuals are actually happier when they encounter someone
with their same
gene «deficiency.»
If
genes determine our mating preferences, how is it that these supposedly hardwired instincts erode in line
with societies» and
individual's gender - egalitarianism?
«Until recently we have been looking for
individual genes associated
with diseases, which drug companies then target
with treatments.
But it's associated
with liver problems in rare
individuals carrying another specific
gene set.
The
individuals with the rare
gene mutations did not appear to differ from the larger population in any other ways, including in measures of blood pressure, body mass index and rates of diabetes.
Just as
with modern Homo sapiens, the genome of a single
individual can not tell us exactly what
genes and traits are specific to all Denisovans.
The investigators mined genetic data from large clinical trials to find
individuals with naturally occurring mutations in the NPC1L1
gene that completely shut it down.
Gene therapy, generally, has been the holy grail of gene - based therapeutics since the 1980s, with just a sprinkling of individual successes over the ye
Gene therapy, generally, has been the holy grail of
gene - based therapeutics since the 1980s, with just a sprinkling of individual successes over the ye
gene - based therapeutics since the 1980s,
with just a sprinkling of
individual successes over the years.
The more diverse the
genes of the MHC, the more effective it is at conferring disease resistance, and in a variety of animals
individuals with diverse MHCs are more likely to be chosen as a sexual partner.
Brains of
individuals who died
with Huntington's, Parkinson's or no neurological condition were analyzed using sequencing technology that provides a data readout of the activity of all
genes in the genome.
«Perhaps as many as 30 percent of schizophrenic patients may now become candidates for more precise treatment based on the
individual characteristics of these four
genes,
with the remaining cases becoming less mysterious as we pull these groups out of the mix,» says Malaspina, the Anita Steckler and Joseph Steckler Professor in the Department of Psychiatry at NYU Langone.
The result is that
individuals with the most common form of the disease have a total of three copies of all the
genes in this region.
Nearly everyone
with the condition is missing these same
genes, although a few rare
individuals retain one or more
genes that most people
with Williams have lost.
Working
with colleagues at St. Vincent's Hospital in Sydney, Martin identified two
individuals who had the characteristics of hereditary nonpolyposis colorectal cancer, which is usually caused by a mutation that inactivates one of a person's two copies of the tumor suppressor
gene MLH1, but who showed no signs of mutation.
For example,
individuals with variations in a
gene called FTO tend to desire high - calorie foods more often and have more fat as a result.
The MGH investigators screened the genomes of 40
individuals with arhinia and 55 family members, from a total of 38 families, revealing rare single - nucleotide mutations within the SMCHD1
gene in 84 percent of affected
individuals.
Individuals with one altered
gene had longer telomeres, the caps on the ends of chromosomes that wear away as we get older, and appeared to be protected against diabetes, the researchers report.
The largest of its kind, the study examined genetic data in 100,000
individuals including 40,000 people
with a diagnosis of schizophrenia and also found that some of the
genes identified as increasing risk for schizophrenia have previously been associated
with other neurodevelopmental disorders, including intellectual disability and autism spectrum disorders.
So her team conducted an analysis of the genetic data from 36,626
individuals to see which
genes were associated
with body fat.
Although
individuals with variants in their FTO
gene have almost double the risk of obesity compared
with those who do not inherit the
gene, «having the FTO variant doesn't mean one is destined to be fat.
Korenberg was the early pioneer of studying these
individuals with partial
gene deletions as a way of gathering clues to the specific function of those
genes and
gene networks.
While several studies in the intervening years have investigated whether particular
genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis, which scans an
individual's whole genome to identify chromosomal regions containing variants that are associated
with the disease traits that are being studied.
Now, two UCLA researchers have come up
with a computational tool that increases the reliability of measuring how strongly
genes are expressed in an
individual cell, even when the cell is barely reading certain
genes.
Audiometric tests performed on
individuals with mutations in this
gene subsequently revealed an unusually high level of diversity in hearing impairments, in terms of both severity and characteristics.
The human UFD1L
gene was deleted in all 182 patients studied
with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 ofUFD1L was found in one
individual with features typical of 22q11 deletion syndrome.
Gene editing could include altering
genes in one person — say to treat leukemia in one patient or make a cosmetic change — but, more controversially, it could also include making changes to the germ line that would then alter the genome for an
individual's children, grandchildren and the following generations,
with potentially unknown repercussions.
Using antibiotics to tamper
with this complicated and little - understood population could irrevocably alter the microbial ecology in an
individual and accelerate the spread of drug - resistant
genes to the public at large.
We screened a total of 394 Amish research subjects for the KCNH7 mutation; 84 of these
individuals carried at least one copy of the
gene variant, and the lifetime incidence of bipolar spectrum disorders among them was 49 percent (41 people were affected
with the disease).
«The finding that ciliome
genes may be disrupted in children
with Down syndrome and AVSD may indicate differences in life - time care for these
individuals,» Zwick says.
By knocking out
individual genes in the mouse, they can systematically discover any that have a crucial biological role, or are linked
with disease.
Individuals who had a particular variation in a specific
gene (platelet derived growth factor D; PDGFD) had a markedly increased risk of adrenal suppression, both in the children
with asthma and adults
with COPD.
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.
Within a species, when some
individuals have a trait that aids their survival — such as a blunt beak that allows them to crack open tough seed coverings — they will pass on the
genes for that trait to their offspring, whereas
individuals with pointed beaks will have died.
Over time, a mating population of native and non-native fish will result in only hybrid
individuals with substantially reduced fitness because their genomes have been infiltrated by nonnative
genes that are maladapted to the local environment.
The competition had whetted everyone's enthusiasm for the age of the
gene, along
with creating some anxiety about what the knowledge would mean for
individual privacy.
Recent work indicates that
individual T lymphocytes possess receptors that interact
with both thymus - dependent antigens and MHC
gene products, either independently or as associated structures.
The investigators confirmed the activity of
genes at the newly identified loci by probing discarded corneal tissue from deceased
individuals with and without Fuchs.
Labs have started tackling the problem
with a tool called single - cell transcriptome analysis, which gives readouts of all the
genes that are active in
individual cells.
In a population
with so few
individuals, an unhealthy mutant
gene will more often find itself paired
with the same mutant
gene in an offspring because the parents are related and of similar genetic makeup.