calcitonin mutations, their relationship with arrhytmia and translation error in the brain of...
TRANSCRIPT
Calcitonin mutations, their relationship with arrhytmia and translation error in the brain of dementia patients.
María Camila Vélez Peláez III Semestre, Medicina.-UPB
Biología Molecular.
INTRODUCCIÓN
Studies suggest abnormal protein transcription relates with hereditary neurodegenerative diseases
Several coding mutations of Camodulin, a protein that plays an important role on heart contraction, might that lead to pathologic conditions
Molecular path-ways relevance.
New #1:Translation Error Tracked in the Brain of Dementia Patients: Enigmatic Aggregates Linked to neurodegeneration.
Hereditary neurodegenerative diseases such as FDT and ALS have a genetic component
Unusual protein aggregates were
found.
New #1:Translation Error Tracked in the Brain of Dementia Patients: Enigmatic Aggregates Linked to neurodegeneration.
TWO FACTS WERE
ASOCIATED
1. Hundreds*of copies of DNA sequence GGGGCC one after another, in C9 or f72.
*Normaly people have less than 20.
New #1:Translation Error Tracked in the Brain of Dementia Patients: Enigmatic Aggregates Linked to neurodegeneration.
2. Abnormal translation (lacking starting signal) was proved to be happening by an unknown mechanism with cell culture experiment.
TWO FACTS WERE
ASOCIATED
Proteins found, tend to
aggregate and are not very
soluble
Nerve cell damage.
Elucidating the mechanism by which this proteins are translated might result in a target for therapy .
New #1:Translation Error Tracked in the Brain of Dementia Patients: Enigmatic Aggregates Linked to neurodegeneration.
OBSERVATION
Association of different facts, such as the two
named in this studies is needed in the research
process to actually find relevant information. In
this case, this might lead to treatment options not
only in this case, but also de discovery of new
translation mechanisms, that could be occurring
in different situations .
New #2: Calcium-Binding Protein Mutations Found in Heart Rhythm Disorders
1. Two children presented early cardiac arrests.
2. Was it de Novo modulation of
genes coding for calmodulin?
Noticia #2: Calcium-Binding Protein Mutations Found in Heart Rhythm Disorders
3.Both children and their parents are
scanned in search of mutations.
De novo mutations were found in 2 of the 3 genes
coding for calmodulin
Noticia #2: Calcium-Binding Protein Mutations Found in Heart Rhythm Disorders
4. Complement studies showed calmodulin mutations in patients with Long QT syndrome.
5. Calmodulin mutations are said to impair binding
between calcium and calmodulin, which leads to
heat contraction abnormalities.
6. There´s a suggestion to continue studies, which is important specialy in children.
Noticia #2: Calcium-Binding Protein Mutations Found in Heart Rhythm Disorders
OBSERVATION
Acute observation is one of the main strengths of
the investigation the article describes, it proves that
if one can take two individuals from different
environments and relate their conditions, ultimately
an origin can be found. Apart from this, I think
authors should emphasize in making this genes get
into the list of mutations of children with arrhythmias.
MEDICAL UTILITY
Gene scanning is proved to be a
growing need in matters of, not only
accurate diagnostication , but
prevention of particular diseases.
MEDICAL UTILITY
Genetic findings conceal information
that reveals physiopathology and
mechanisms that DNA goes though in particular situations.
Better understanding of
disease.
MEDICAL UTILITY
Therapeutic targets can be found and
treatments developed as
molecular pathways are understood.
MEDICAL UTILITY
Particularly
ALS and FDT patients are closer to a possible
treatment
Calmodulin genes can now be taken into
account in gene testing for arrhythmias in
children.
BIBLIOGRAPHY
Translation Error Tracked in the Brain of Dementia Patients:
Scientists Identify Enigmatic Aggregates Linked to
Neurodegenerative Diseases. Science Daily. February 13 /2013.
Calcium-Binding Protein Mutations Found in Heart Rhythm
Disorders .Science Daily. February 13 /2013.