35 research outputs found
New molecular approaches in adipogenesis regulation: The connexin 43 role
Indexación: Scopus; Redalyc.La prevalencia de la obesidad a nivel mundial se ha incrementado
rápidamente durante los últimos años debido principalmente
a los cambios en el estilo de vida de la población
con un aumento significativo en el consumo de energía y disminución
de los niveles de actividad física. Es por esto que
la comunidad científica está interesada en comprender de
forma más profunda los mecanismos que regulan la fisiopatología
de la obesidad. Dentro de los diferentes blancos de
estudio se encuentra la adipogénesis, cuyo entendimiento es
fundamental para comprender el desarrollo de la obesidad y
las patologías asociadas a esta. Recientemente ha surgido
importantes evidencias que involucran a la proteína de canales
de “Gap Junction” conexina 43 (Cx43) en la regulación
de los procesos relacionados con adipogénesis, cuyo papel
es básicamente anti-adipogénico, sin embargo, nuevas funciones
de Cx43 en la regulación de la formación del tejido
adiposo siguen descubriéndose.The global prevalence of obesity has been increased rapidly
over the past few years mainly due to changes in the lifestyle
of the population with a significant increase in energy
consumption and decreased levels of physical activity. As a
result, the scientific community is interested in a deeper understanding
of the mechanisms that regulate the pathophysiology
of obesity. In this context, adipogenesis process is an
important target of study to understand the obesity and associated
pathologies. Recently has been emerged important
evidence that involve gap junction channel protein connexin
43 (Cx43) in the regulation of processes related to adipogenesis,
whose role is fundamentally anti-adipogenic. However,
new functions of Cx43 in the regulation of adipose tissue
function also continued to emerge.http://www.redalyc.org/articulo.oa?id=5594990800
Origins of the Ambient Solar Wind: Implications for Space Weather
The Sun's outer atmosphere is heated to temperatures of millions of degrees,
and solar plasma flows out into interplanetary space at supersonic speeds. This
paper reviews our current understanding of these interrelated problems: coronal
heating and the acceleration of the ambient solar wind. We also discuss where
the community stands in its ability to forecast how variations in the solar
wind (i.e., fast and slow wind streams) impact the Earth. Although the last few
decades have seen significant progress in observations and modeling, we still
do not have a complete understanding of the relevant physical processes, nor do
we have a quantitatively precise census of which coronal structures contribute
to specific types of solar wind. Fast streams are known to be connected to the
central regions of large coronal holes. Slow streams, however, appear to come
from a wide range of sources, including streamers, pseudostreamers, coronal
loops, active regions, and coronal hole boundaries. Complicating our
understanding even more is the fact that processes such as turbulence,
stream-stream interactions, and Coulomb collisions can make it difficult to
unambiguously map a parcel measured at 1 AU back down to its coronal source. We
also review recent progress -- in theoretical modeling, observational data
analysis, and forecasting techniques that sit at the interface between data and
theory -- that gives us hope that the above problems are indeed solvable.Comment: Accepted for publication in Space Science Reviews. Special issue
connected with a 2016 ISSI workshop on "The Scientific Foundations of Space
Weather." 44 pages, 9 figure
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
Purpose: To identify the molecular cause in five unrelated families
with a distinct autosomal dominant ocular systemic disorder we
called ROSAH syndrome due to clinical features of retinal dystrophy,
optic nerve edema, splenomegaly, anhidrosis, and migraine headache.
Methods: Independent discovery exome and genome sequencing
in families 1, 2, and 3, and confirmation in families 4 and 5.
Expression of wild-type messenger RNA and protein in human and
mouse tissues and cell lines. Ciliary assays in fibroblasts from
affected and unaffected family members.
Results: We found the heterozygous missense variant in the ɑkinase gene, ALPK1, (c.710C>T, [p.Thr237Met]), segregated with
disease in all five families. All patients shared the ROSAH
phenotype with additional low-grade ocular inflammation, pancytopenia, recurrent infections, and mild renal impairment in some.
ALPK1 was notably expressed in retina, retinal pigment epithelium,
and optic nerve, with immunofluorescence indicating localization
to the basal body of the connecting cilium of the photoreceptors,
and presence in the sweat glands. Immunocytofluorescence
revealed expression at the centrioles and spindle poles during
metaphase, and at the base of the primary cilium. Affected family
member fibroblasts demonstrated defective ciliogenesis.
Conclusion: Heterozygosity for ALPK1, p.Thr237Met leads to
ROSAH syndrome, an autosomal dominant ocular systemic
disorder
Evaluation of family health history collection methods impact on data and risk assessment outcomes
10.1016/j.pmedr.2020.101072Preventive Medicine Reports1810107
Association of the rs1801133 variant in the MTHFR gene and sporadic Parkinson's disease
The MTHFR gene has been reported as a susceptibility locus for sporadic Parkinson's disease (sPD). The functional variant rs1801133 has been linked to hyperhomocysteinemia and dopaminergic cell death. Among different populations, Mexican-Mestizos (most present-day Mexicans) have the highest frequency of this variant. Therefore, we sought to determine a possible association of rs1801133 with SPD. In total, 356 individuals were included: 140 pa tients with PD, diagnosed according to the Queen Square Brain Bank criteria, and 216 neurologically healthy controls. Genotyping was performed using TaqMan probes for rs1801133 and real-time PCR. Logistic regression analysis with adjustment for smoking and gender was used to test for an association between genotype and SPD. The CC genotype was associated with SPD; exp(?) = 2.06; 95% CI: 1.101-3.873, p = 0.024. No association with age at onset, cognitive impairment or gender was found in our study group. Our data suggest an important role of MTHFR gene variants in SPD