2. Medical Utility Bibliography Polygenic mutations
• lina maríamartínez sanchez.biologíamolecular.7 ed. upb:
facultad de medicina.
• grald karp,biologíamoleculary celular, editorial mcgraw-
hill.
• Oxford UniversityPress(September 12, 2017) Cold comfort:
Fat-rich dietsand adaptationamong indigenous Siberian
populations.Siencedailiy. From:
https://www.sciencedaily.com/releases/2017/09/17091217050
5.htm
• Universityof California- Davis (June 27, 2017)Mice provide
insightinto genetics of autismspectrum disorders.Sience
dailiy.From:
https://www.sciencedaily.com/releases/2017/06/17062713444
5.htm
By: Ana María Zapata Cadavid
Molecular Biology
Teacher: Lina Martinez
it is important for a doctor to know the genetic
disorders that may present
their patients, to know that
possible diseases associated
with this type of mutations
specifically polygenic can
present the person to know
more about genetics in in
generaland something
important is the treatment of
the disease , because if it is
not known that it is difficult
to leave a power to carry out
a treatment
3. Introduction
polygenic diseases are produced by the
combination of
mutations in
several genes
generally on
different chromos-
omes and under
the influence of
multiple - environ
factors. they are more difficult to
analyze than monogenic diseases
since they involve several factors.
Polygenic mutations and autism
In this study, they discovered a gene that his mutation
develops the autism disease and were discovered on mice.
Howdidtheydiscoverit? By
brain models of mice, they
have 85% of genes in
common.They showed that
the CHD8 gene mutation
caused this pathology in
mice and also.
generated megaloceles, which is also evident in humans.
Whatdidtheyfind?The CHD8 gene encodes a protein
responsible for the packaging of DNA in cells throughout the
body. DNA packaging controlshow genes are activated and
deactivated in cells during development.
Opnionstudent:It is importantto know where the mutation
comes from and to carryout experiments to achieve it. To
know how to treat the disease.
Polygenic mutations and lipids
metabolism
They have led a new study that identifies new signalsof adaptation
acrossmultiple genes and exploring a historicalhistory.
Whattheydo?
Extensiveanalysison the DNA
sequencing data of Siberian
populationscould infer the
demographichistoryand more
completeadaptation.
Isit useful?
Yes it is useful, becausethey
found gene sets of which3 sets
are related to diet, especially
withfat metabolism,all these
play an .
importantrole in energy productionand structure of cell
membranes,digestive enzymes and the digestionand absorption
of proteins.
Opinionstudent:
The advancementof technologyhasgenerated moreopportunities
to improvelifestylesas evidenced in this study.
5. Mice provide insight into genetics of autism spectrum
disorders
September 12, 2017
6. Mice provide insight into genetics of autism spectrum disorders
There is no specific genetic cause known for most cases of
autism, but many different genes have been linked to the
disorder. In rare and specific cases of people with ASD, a copy of
a gene called CHD8 is mutated and loses function.
While definitive causes remain unclear, several genetic and
environmental factors increase the likelihood of autism
spectrum disorder, or ASD, a set of conditions that cover the
"spectrum" of symptoms, abilities, and levels of disability.
7. Mice provide insight into genetics of autism spectrum disorders
Changes in mouse DNA mimic changes in huan
DNA and reverse. In addition, mice exhibit
behaviors that can be used as models for exploring
human behavior.
"Behavioral tests with mice provide us with information
about sociability, anxiety and cognition, from where we
can examine changes at the anatomical and cellular level
to find links across dimensions," Nord said
Mice experiment
8. Mice provide insight into genetics of autism spectrum disorders
Genes involved in critical biological processes such as
synapse function were affected by the CHD8 mutation.
This suggests that CHD8 plays a role in brain function
throughout life and may affect more than early brain
development in autistic individuals.
9. STUDENT´s OPINION
It is important to know where the mutation
comes from and to carry out experiments to
achieve it. To know how to treat the disease.
10. Cold comfort: Fat-rich diets and adaptation among
indigenous Siberian populations
June 27, 2017
11. Cold comfort: Fat-rich diets and adaptation among indigenous Siberian populations
In the Arctic, prosperous indigenous populations have made adjustments to live in one of the coldest and hardest places on
Earth.
Recently, scientists have been exploring the genetic signatures of adaptation in several indigenous populations adapted to the
cold.
12. Cold comfort: Fat-rich diets and adaptation among indigenous Siberian populations
DATA were used from various East Asian and
European populations of the 1000 genome
project. This resulted in a total of 508,160 single
nucleotide variants (SNVs), or DNA mutations,
to sift and find some genetic themes common to
adaptation to cold.
13. Cold comfort: Fat-rich diets and adaptation among indigenous Siberian populations
These two populations remain isolated from each other. And sometimes, the ancient Siberians were severely tested by
brutal environmental conditions. The authors found evidence of population bottlenecks that drastically reduced
population size by almost 90 percent in the ancestors of East Asians and Siberians, then recovery and exponential
expansion to current population sizes.
16. Medical utility
The experiment carried out in Siberians
and the finding of such genes makes it
possible to identify in the clinical part
much better the metabolism of fats as
such.
17. Medical utility
Mice are the most used because they serve
as a valuable example to find out how a
mammalian organism reacts to an
aggression, infection or experimental
intoxication.
18. Medical utility
It is very important to know the polygenic
mutations and the environmental factors
that can arise in a pathology since this can
influence the correct treatment.
19. bibliography
• lina maría martínez sanchez. biología molecular. 7 ed. upb: facultad de
medicina.
• grald karp, biología molecular y celular, editorial mcgraw-hill
• Oxford University Press (September 12, 2017) Cold comfort: Fat-rich diets
and adaptation among indigenous Siberian populations.Sience dailiy.
From: https://www.sciencedaily.com/releases/2017/09/170912170505.htm
• University of California - Davis (June 27, 2017)Mice provide insight into
genetics of autism spectrum disorders. Sience dailiy. From:
https://www.sciencedaily.com/releases/2017/06/170627134445.htm
20. “He never considers study as an obligation, but as an
opportunity to penetrate the beautiful and
wonderful world of KNOWLEDGE.”
ALBERT EINSTEIN
ALBERT EINSTEIN
