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Seminario BioMol Made Durango
- 1. ARTICLE REVIEW | 2023 Madeline Durango Duque III Semester Pontifical Bolivarian University
- 2. Late-onset cerebellar ataxias (LOCAs) Late-onset cerebellar ataxias (LOCAs) are a heterogeneous group of neurodegenerative disorders manifesting as a progressive cerebellar syndrome that develops after 30 years of age and it's hard to diagnose because of limitations in molecular testing to identify sequence variations. Introduction
- 3. Introduction FGF14 is a growing factor (protein) that has a triplet of nucleotides in it´s genome; GAA and when this triplet repeats 250 or more times in the intronic genome of FGF14 its associated with developing the disease (LOCA). FGF14 GAA repeat expansion
- 4. Overall Objective The study aimed to clarify the involvement of Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
- 5. PCR Immunohistoc hemistry 01 02 Methods PCR is used to amplify DNA specific molecules using enzymes to know if that DNA fragments are present in the patient's sample and in some cases quantify it. Technique based on using marked antibodies to look for specific antigens in a tissue sample and their cell location.
- 6. DNA Sequencing Induced cells to motor neurons. 03 04 Methods Is the process of determining the nucleic acid sequence, the order of nucleotides in DNA using fluorochromes. This test is helpful in identifying Polymorphisms. Inducing pluripotent cells to differentiate into motor neurons to see how the disease affects this cell type specifically.
- 7. Results ARTICLE REVIEW | 2023
- 8. Results
- 9. Discussion van Swieten JC, Brusse E, de Graaf BM, et al. Exonic point and frameshift variants in FGF14 have previously been shown to cause autosomal dominant spinocerebellar ataxia 27. Richards S, Aziz N, Bale S, et al. The FGF14 (GAA)≥250 expansion is pathogenic according to criteria of the American College of Medical Genetics and Genomics Adam MP, Everman DB, Mirzaa GM, et al. Several lines of evidence suggest that the FGF14 GAA repeat is highly unstable. First, the number of FGF14 GAA repeats varies from 8 to 300 in unaffected persons. In comparison, the FXN repeat length ranges from 5 to 33 repeats among unaffected persons.
- 10. 1 2 Conclusions Studying Genes and nucleic acids trhu molecular biology methods can guide doctors to establish the origin of many gen-related diseases Molecular testing like PCR is helpful in medicine to diagnose some diseases easily and more effective than other methods.
- 11. MIND MAP