Markers of importance diseases in developmental biology.pptx

Markers of importance diseases in developmental biology - Dr.M.Jothimuniyandi - heart - skeletal-muscular - congenital -neural- genetical- endocrine-hematological -kidney -cancer-Methylenetetrahydrofolate Reductase -Waarden burg syndrome-homeobox genes- osteogenesis imperfecta -achondroplasia-dwarfism-Duchenne and Becker muscular dystrophies-Emery-Dreifuss muscular dystrophy-megakaryoblastic leukemia-pseudohypoparathyroidism-Fragile X syndrome-Rett syndrome -Li-Fraumeni syndrome-retinoblastoma-renal coloboma syndrome-Wilms' tumor-urogenital abnormalities-pediatric kidney cancer.

1. Markers of importance diseases in developmental biology Dr.M.Jothimuniyandi

2. Markers of importance diseases Markers are specific biological molecules found in blood, other body fluids, or tissues that indicate normal or abnormal processes, conditions, or diseases. They are essential in diagnosing, monitoring, and managing various diseases . In developmental biology, the markers associated with important diseases is crucial for diagnosing, studying disease mechanisms, and developing potential therapies . These markers often indicate disruptions in normal developmental processes, leading to congenital anomalies, developmental disorders, or predispositions to certain diseases. Here are some markers linked to important diseases in developmental biology:

3. 1. Congenital Heart Defects: NKX2.5: Mutations in this transcription factor are linked to various congenital heart defects, including atrial septal defects and Tetralogy of Fallot . GATA4 : Mutations can lead to heart malformations, including ventricular septal defects and atrioventricular septal defects . TBX5 : Mutations in TBX5 are associated with Holt- Oram syndrome, which includes congenital heart defects and limb abnormalities.

4. 2. Neural Tube Defects (NTDs): Folate Pathway Markers: Mutations in genes involved in folate metabolism, such as MTHFR ( Methylenetetrahydrofolate Reductase ) , are linked to an increased risk of NTDs like spina bifida and anencephaly . PAX3 : Mutations in this gene are associated with Waardenburg syndrome, which includes neural crest defects and can result in NTDs.

5. 3. Craniofacial Disorders: FGFR2 (Fibroblast Growth Factor Receptor 2): Mutations in FGFR2 are linked to craniosynostosis syndromes such as Apert syndrome and Crouzon syndrome, where premature fusion of skull bones occurs . MSX1 and MSX2: These are homeobox genes, and mutations are associated with cleft lip and palate, as well as other craniofacial abnormalities.

6. 4. Skeletal Dysplasias : COL1A1/COL1A2: Mutations in these genes, which encode type I collagen, are linked to osteogenesis imperfecta , a condition characterized by brittle bones . FGFR3 : Mutations in FGFR3 cause achondroplasia , the most common form of dwarfism, and other skeletal dysplasias .

7. 5. Muscular Dystrophies: Dystrophin (DMD gene): Mutations in the DMD gene, which encodes dystrophin , lead to Duchenne and Becker muscular dystrophies. These are X-linked disorders that cause progressive muscle degeneration . Lamin A/C (LMNA): Mutations can result in Emery- Dreifuss muscular dystrophy and other laminopathies affecting muscle integrity.

8. 6. Hematological Disorders: GATA1: Mutations in GATA1 are associated with certain forms of anemia and thrombocytopenia, as well as with Down syndrome-associated acute megakaryoblastic leukemia . HBB ( Hemoglobin Beta): Mutations in the HBB gene lead to sickle cell disease and β- thalassemia, disorders affecting red blood cell development.

9. 7. Endocrine Disorders: PROP1 and POU1F1: Mutations in these genes are linked to combined pituitary hormone deficiency, affecting the development of multiple pituitary hormones . GNAS : Mutations in the GNAS gene can cause pseudohypoparathyroidism and other disorders involving hormone resistance.

10. 8. Genetic Syndromes with Developmental Delay: MECP2 : Mutations in MECP2 are responsible for Rett syndrome, a neurodevelopmental disorder primarily affecting females, leading to severe cognitive and physical impairments . FMR1 : Expansions of the CGG repeat in the FMR1 gene cause Fragile X syndrome, the most common inherited cause of intellectual disability.

11. 9. Cancer Predisposition Syndromes: TP53: Mutations in the TP53 gene, which is crucial for DNA repair and apoptosis, are linked to Li- Fraumeni syndrome, predisposing individuals to various cancers at a young age . RB1 : Mutations in the RB1 gene lead to retinoblastoma, a childhood cancer that affects the retina, and increases the risk of other cancers later in life.

12. 10. Kidney Development Disorders: PAX2: Mutations in PAX2 are associated with renal coloboma syndrome, which affects kidney and eye development . WT1 : Mutations in WT1 are linked to Wilms ' tumor, a pediatric kidney cancer, and other urogenital abnormalities . These markers not only help in understanding the pathogenesis of these developmental diseases but also serve as potential targets for early diagnosis, intervention, and treatment strategies.

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