Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is characterized by weakness and atrophy of the muscles around the eyes. The initial symptom is often ptosis (which can initially be unilateral), followed by double vision, loss of peripheral vision, cataracts, hypogonadism, ataxia, and parkinsonism. The condition can be caused by mutations in the POLG gene (DNA Polymerase Gamma, Catalytic Subunit). The POLG gene is responsible for efficient and accurate replication of mitochondrial DNA. Mutations in this gene can lead to depletion or deletion of mitochondrial DNA. These mutations can also result in POI.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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