Summary

The Parkinson's-Reversing Breakthrough

Treatment for Parkinsons

Get Instant Access

The genetics of PD and related conditions are complex, even in monogenic parkin-sonism. The discovery of mutations in the genes for SNCA, parkin, UCHL1, PINK1, DJ-1, and LRRK2 has created a unique glimpse into the basic mechanisms responsible for this neurodegenerative process. Further genetic studies of already known PD loci will undoubtedly uncover more mutations in more genes. Subsequent clinical

FIGURE 1 Genes and mutations associated with parkinsonism. Gene names are indicated in italics with their chromosomal assignment. (A) SNCA (4q21); (B) parkin (6q25.2-27); (C) UCHL1 (4p14-15); (D) PINK1 (1p35-36); (E) DJ-1 (1p36); and (F) LRRK2 (12p11.2-q13.1). Boxes represent coding sequence. Amino acids (aa) are shown N' to C' terminal. Coding mutations are indicated above; splice-site mutations and exonic and nucleotide deletions are represented below (not to scale). *Coding polymorphism associated with disease. Source: From Ref. 57.

FIGURE 1 Genes and mutations associated with parkinsonism. Gene names are indicated in italics with their chromosomal assignment. (A) SNCA (4q21); (B) parkin (6q25.2-27); (C) UCHL1 (4p14-15); (D) PINK1 (1p35-36); (E) DJ-1 (1p36); and (F) LRRK2 (12p11.2-q13.1). Boxes represent coding sequence. Amino acids (aa) are shown N' to C' terminal. Coding mutations are indicated above; splice-site mutations and exonic and nucleotide deletions are represented below (not to scale). *Coding polymorphism associated with disease. Source: From Ref. 57.

and pathological correlations will aid not only our understanding of the mechanisms involved in cell dysfunction and death but also our ability to intervene.

A large number of families have been described for which the genetic pathogenesis of PD has yet to be explored. The study of these families—and those yet to be discovered—will further enhance our knowledge of the biologic underpinnings of this neurodegenerative disease. With this background, an understanding of gene-gene and gene-environment interactions is also emerging. After almost 190 years, only short-term palliative remedies are presently available, but hope now exists that this work will lead to curative treatments for PD.

Was this article helpful?

0 0

Post a comment