Discuss the difference between various cells and the role these cells play in specific disease processes. 150 words.
A two-year-old male that presents with a retinal tumor and, ultimately, retinoblastoma. Retinoblastoma is a malignant ocular tumor in children that occurs when there is a mutation in the RB1 tumor suppressor gene (Machin et al., 2017). This single cell mutation is passed through an autosomal dominant pattern, meaning that it only takes one parent’s mutated gene to pass onto the child. This mutation leads to the malignancy because tumor suppression is not present. When there are somatic mutations on both alleles, non-heritable retinoblastoma occurs, whereas heritable retinoblastoma occurs from a germline mutation in at least one allele. Mutations are classified as either germline or somatic (Dimaras et al., 2015) . Germline mutations occur in gametes and are passed onto offspring, where every cell in the entire organism are affected (Sun et al., 2018). Somatic mutations occur in a single body cell and cannot be inherited; therefore, only tissues derived from mutated cells are affected. The normal function of the retinoblastoma protein (pRB) is regulating cell growth and prevents cells from dividing uncontrollably, which play a vital role in tumor suppression. pRB also works with other proteins to affect cell survival, cell destruction, and differentiation (Velez-Crus & Johnson, 2017).
Discuss the difference between various cells and the role these cells play in specific disease processes. 150 words.
An 18 year old male presents with ADHD, small testes and learning disabilities. After a workup it is determined that he has a kerotype 47 XXY.
Karyotype 47 XXY refer as Klinefelter Syndrome is a chromosomal variation in males in which one extra X chromosome is present, resulting in 47,XXY karyotype. Male with 47,XXY have one extra X chromosome because of a nondisjunction error that randomly occur during the division of the sex chromosomes in the egg or sperm. Long term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome including osteoporosis, low mood, reduced sex drive, low self-esteem an low energy levels, although it cannot reverse infertility (NHS, 2019 ).
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