Unraveling Genetic Susceptibility in Neurodegenerative Disorders: Exploring Familial Aggregation and Potential Therapeutic Targets

Abstract

Background: Neurodegenerative disorders such as Parkinson’s and Huntington’s diseases are influenced by complex interactions between genetic predispositions and environmental factors. Identifying genetic markers and understanding how environmental exposures impact these diseases are critical for developing effective therapeutic strategies.

Objective: This study aimed to analyze the genetic risk factors and environmental contributions to Parkinson’s and Huntington’s diseases, with a focus on identifying common genetic markers and assessing the impact of environmental exposures.

Methods: Twelve patients diagnosed with Parkinson's or Huntington's disease were selected for genetic and environmental factor analysis. Genetic predispositions were examined through DNA sequencing targeting known risk genes such as LRRK2 for Parkinson’s and HTT for Huntington’s. Environmental exposures were assessed through patient surveys. The study also integrated advanced bioinformatics tools for data analysis, but lacked a longitudinal follow-up to track progression and variability of the diseases over time.

Results: The impact of genetic mutations on disease predisposition was significant, with LRRK2 and HTT mutations scoring 4 and 5 respectively on an impact scale. Environmental factors showed a moderate influence, with pesticide exposure in Parkinson’s and heavy metal exposure in Huntington’s scoring 2 and 1, respectively. Statistical analysis revealed a strong association between genetic factors and disease manifestation with p-values <0.01 for both diseases.

Conclusion: The study confirms the high impact of genetic factors in the development of Parkinson’s and Huntington’s diseases compared to environmental factors. Future research should include a larger sample size and longitudinal data to better understand the interplay of genetics and environmental factors over time.