Presentation Title
Progressive External Ophthalmoplegia has an unusual Inheritance Pattern Depending on the Gene Involved
Document Type
Poster Session
Department
Southern Maine Community College
Faculty Mentor
Daniel Moore, PhD
Abstract
Progressive external ophthalmoplegia (PEO) is characterized by weakness of the eye muscles or mainly by a loss of the muscle functions in the eye (Ophthalmoplegia) and eyelid movement (ptosis). The signs and symptoms typically appear or tend to begin in early adulthood and slowly worsens over time and lead paralysis of one or more extraocular muscles. People with PEO may also have a general weakness of the skeletal muscles used for movement (myopathy). PEO is a disease of mitochondrial origin and it is mainly caused by defects or mutations in any of several mitochondrial proteins. Mitochondria are structures in cells that use oxygen to convert the energy from food into a form that cells can use. It has different inheritance patterns depending on the gene of the affected individual. Mitochondria have their own chromosome and DNA replication system, including a unique DNA polymerase, called polymerase gamma (Pol G). The aim of this literature review is to discuss the types of PEO resulting from mutations in the mitochondrial genome, as well as, how this results in a maternal inheritance pattern.
Open Access?
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Progressive External Ophthalmoplegia has an unusual Inheritance Pattern Depending on the Gene Involved
Progressive external ophthalmoplegia (PEO) is characterized by weakness of the eye muscles or mainly by a loss of the muscle functions in the eye (Ophthalmoplegia) and eyelid movement (ptosis). The signs and symptoms typically appear or tend to begin in early adulthood and slowly worsens over time and lead paralysis of one or more extraocular muscles. People with PEO may also have a general weakness of the skeletal muscles used for movement (myopathy). PEO is a disease of mitochondrial origin and it is mainly caused by defects or mutations in any of several mitochondrial proteins. Mitochondria are structures in cells that use oxygen to convert the energy from food into a form that cells can use. It has different inheritance patterns depending on the gene of the affected individual. Mitochondria have their own chromosome and DNA replication system, including a unique DNA polymerase, called polymerase gamma (Pol G). The aim of this literature review is to discuss the types of PEO resulting from mutations in the mitochondrial genome, as well as, how this results in a maternal inheritance pattern.
