1. Autosomal Dominant Optic Atrophy Type 1
Britney Hopgood-Berdecia1, Wilnerys Colberg-Hernandez & Kamil Suliveres-Caraballo 2, Academia Sagrado Corazon1, Universidad Metropolitana2
• The objective of this research lies in studying the protein. To do this bioinformatics programs like
GeneDoc, FigTree, and MEME suite are going to be used to analyze the protein.
Autosomal Dominant Optic Atrophy type 1 (ADOA) is a progressive condition that normally
begins within the first decade of life. The severity of the vision loss can vary among affected
people; it can go from having nearly normal vision to being completely blind. The condition is
caused by a mutation in the OPA1 gene, the protein that this gene produces is found in the
mitochondria, and plays a big role in the maintenance of the mitochondrial DNA (mtDNA), if this
process does not occur the information from the eyes to the brain become disrupted. The
importance of this research lies in studying the protein. To do this bioinformatics programs like
GeneDoc, Meme Suite and FigTree were used to analyze the protein. The results in GeneDoc
show that there was from an 80-100% in the level of conservation, Meme Suite showed us the 3
important residues in the protein, FigTree shows there are 10 organisms with the same ancestor.
This tells us that the protein is well conserved and will help in further investigations of other
species with similar genetic sequences.
The results in GeneDoc show that there was from an 80-100% in the level of
conservation, Meme suite showed the important residues in the protein, FigTree
shows there are 10 organisms that share the same ancestor. This tells us that the
protein is well conserved and will help in further investigations of other species
with similar genetic sequences.
• NSF
• Juan F. Arratia
• Wilnery Colberg
• Kamil Suliveres
• Amati- Bonneau, P., D. Milea, and D. Bonneau. "OPA1-associated disorders: phenotypes and pathophysiology.." .
http://www.ncbi.nlm.nih.gov/pubmed/19389487?dopt=Abstract (accessed March 1, 2014).
• "OPA1." - optic atrophy 1 (autosomal dominant). http://ghr.nlm.nih.gov/gene/OPA1 (accessed February 20,
2014).1
• "Optic atrophy type 1." - Genetics Home Reference. http://ghr.nlm.nih.gov/condition/optic-atrophy-type-1
(accessed May 10, 2014).2
• "Optic atrophy type 1." - Genetics Home Reference. http://ghr.nlm.nih.gov/condition/optic-atrophy-type-
1#genes (accessed March 10, 2014).3
• Ronnback, C., D. Milea, and M. Larsen. "Result Filters." National Center for Biothecnology Information.
http://www.ncbi.nlm.nih.gov/protein/NP_570845.1 (accessed March 10, 2014).
• Figure A: GeneDoc showed us that in the levels on
conservation there were from an 80% to a 100%.
100%
80%
Abstract
Introduction
Objective
Methodology
Conclusion
Results
References
Acknowledgments
•Optic Atrophy Type 1 is a condition that affects vision, it is a progressive condition that normally
begins within the first decade of life. The severity of the vision loss may vary among affected people,
even among members of their own family.The condition can range from having nearly normal vision to
being completely blind; the vision loss usually progresses slowly. 1
•People with the condition normally have problems with color vision, which makes it difficult for them
to discern between the colors blue and green. Problems associated with this condition also include a
progressive narrowing of the field of vision (tunnel vision), also an abnormal pale appearance (pallor)
of the nerve which relays the visual information from the eye to the brain (optic nerve). Optic nerve
pallor can also be detected during an eye examination.2
•The condition is caused by a mutation in the OPA1 gene. The protein which this gene produces is found
in the mitochondria; the protein plays a big role in the organization of the shape and the structure of
the mitochondria and in the self-destruction of cells. The maintenance of the mtDNA is the vital
process to decide if the information from the eyes to the brain will become disrupted, and lead to the
mutation.3
• Figure C: FigTree showed that there are 10 organisms with the
same ancestor.
• Figure B: MEME Suite showed us that there are 3 important
residues in the protein.
FIG TREE