1) The document discusses calcitonin mutations and their relationship to arrhythmia and translation errors in the brains of dementia patients. 2) It describes studies that suggest abnormal protein transcription relates to hereditary neurodegenerative diseases and that coding mutations of the protein calmodulin, which plays an important role in heart contraction, may lead to pathological conditions. 3) Two news articles are summarized, one discussing translation errors tracked in the brains of dementia patients and abnormal protein aggregates linked to neurodegeneration, and another discussing calcium-binding protein mutations found in children with heart rhythm disorders.

1. 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.

2. FOLDING

3. FOLDING

4. INTRODUCCIÓN
Studies suggest
abnormal protein
transcription relates
with hereditary
neurodegenerative
diseases
Molecular path-
ways relevance.
Several coding mutations
of Camodulin, a protein
that plays an important
role on heart contraction,
might that lead to
pathologic conditions

5. 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.

6. New #1:Translation Error Tracked in the Brain
of Dementia Patients: Enigmatic Aggregates
Linked to neurodegeneration.
TWO
1. Hundreds*of copies
FACTS
of DNA sequence
WERE
GGGGCC one after
ASOCIATE
another, in C9 or f72.
D
*Normaly people
have less than
20.

7. New #1:Translation Error Tracked in the Brain
of Dementia Patients: Enigmatic Aggregates
Linked to neurodegeneration.
2. Abnormal translation
TWO (lacking starting signal)
FACTS was proved to be
WERE happening by an unknown
ASOCIATE mechanism with cell
D culture experiment.

8. New #1:Translation Error Tracked in the Brain
of Dementia Patients: Enigmatic Aggregates
Linked to neurodegeneration.
Proteins found, Elucidating the mechanism
tend to by which this proteins are
aggregate and translated might result in a
are not very target for therapy .
soluble
Nerve cell
damage.

9. 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 .

10. 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?

11. 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

12. Noticia #2: Calcium-Binding Protein
Mutations Found in Heart Rhythm Disorders
4. Complement studies
showed calmodulin
mutations in patients
with Long QT
syndrome.

13. Noticia #2: Calcium-Binding Protein
Mutations Found in Heart Rhythm Disorders
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.

14. 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.

15. MEDICAL UTILITY
Gene scanning is
proved to be a
growing need in
matters of, not only
accurate
diagnostication , but
prevention of
particular diseases.

16. MEDICAL UTILITY
Genetic findings
conceal information
that reveals
physiopathology and
mechanisms that
DNA goes though in
particular situations.
Better
understanding of
disease.

17. MEDICAL UTILITY
Therapeutic targets
can be found and
treatments
developed as
molecular pathways
are understood.

18. MEDICAL UTILITY
Particularly
ALS and FDT
Calmodulin genes can
patients are
now be taken into
closer to a
account in gene testing
possible
for arrhythmias in
treatment
children.

19. 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.