10.17 BIO

Pathogenetic Changes in Gene Expression

• Definition: Pathogenetic changes refer to alterations in gene expression that can influence the development and progression of various diseases in humans.

• Importance in Disease: Understanding these changes is crucial for understanding the biological mechanisms underlying different diseases.

Example: Myelodysplastic Syndromes (MDS)

• Description: MDS is described as a type of cancer that affects the blood and bone marrow.

Case Study: Bridgette

• Communication Challenges: Bridgette has a significant communication impairment; she is essentially nonverbal.

• Nature of Speech:

  • Purposeful conversational speech: Bridgette does not engage in purposeful conversational speech.

  • Memorized Speech: The speech that she does produce is largely memorized, indicating a lack of spontaneous or flexible communication abilities.

  • Repetitive Speech: Describing her speech habits as talking the same things over and over again highlights the challenges she faces in communication due to her condition.

Implications of Gene Expression Changes in MDS and Communication Disorders

• Genetic Factors: Changes in gene expression could potentially play a role in the pathophysiology of both MDS and the communication challenges seen in individuals like Bridgette.

• Understanding Mechanisms: Studying these gene expression changes could reveal insights into therapeutic targets for treatment and better communication strategies for those affected by such disorders.