Jornal de Síndromes Genéticas e Terapia Gênica
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Abstrato

Genetics of Headaches and Primary Headaches

Sevda Karatas

This guide describes various genetic research methods and results for primary headaches. Positive family history is imprecise because it does not specify the number affected family size, or relationship to the group. It also does not include an interview with family members who may be affected. It is more accurate to calculate the family aggregate after confirming the doctor's diagnosis. Compared with the general population, first-degree relatives of people with migraine without pain, migraine with pain, chronic tension headache, and cluster headache have an increased risk of developing the disorder. The prevalence of proband disorder has significantly increased. Data is confirmed in twin studies. The primary headaches are caused by a combination of genetic and environmental factors. A major breakthrough was identification of 3 different genes all causing the rare autosomal dominant inherited familial hemiplegic migraine. The genes encode ion channels. So far no genes have been identified to cause the more common types of primary headaches.

Unfortunately, the majority of positive outcomes identified through these types of in vitro screens were found to be ineffective and/or toxic in subsequent validation experiments in global animal models. New tools and platforms for discovery are needed to overcome these limitations. Incorporating Drosophila into the therapeutic discovery process holds great promise for increasing the discovery rates of higher quality leads. Drosophila's human disease models offer a number of distinctive features, such as robust genetics, highly conserved routes of transmission, and very low comparative costs. The fly can be effectively used for low-to high-throughput drug screens as well as target detection. Here, we review the basic biology of flies and discuss human disease patterns and opportunities to explore therapeutics for central nervous system disorders, inflammatory disorders, heart disease, cancer, and diabetes. We also provide information and resources for those interested in studying the human disease model in flies, as well as those interested in using Drosophila in drug discovery.