Other Schuele Lab Research Projects Summary


Epigenetic Regulation and Aberrant Methylation Pattern in PD

Epigenetics is the study of factors other than underlying DNA variants in the regulation of phenotype or gene expression. Molecular components of epigenetic regulation include DNA methylation and histone/chromatin modification.

DNA methylation involves the addition of a methyl group to DNA. Methylation of CpG sites, where a phosphate separates cytosine and guanine, in the promoter regions of genes can lead to silencing. This is an important mechanism for epigenetic regulation.

Looking for aberrations in methylation patterns and other epigenetic regulators in Parkinson’s disease models and patients may help us better understand the pathology of this complex disease.

 Clinical Next-Generation Sequencing of Mitochondrial Genes

All five genes that are directly causative for Parkinson's disease (PD) or Parkinsonism (SNCA, LRRK2, PARK2, PINK1, and PARK7) in familial cases have been associated with mitochondrial dysfunction.

The overall goal of this project is to develop a strategy towards clinical resequencing in PD, defined as large-scale gene sequence analysis in clinically characterized individuals for the discovery of novel variants involved in the etiopathogenesis of PD.

In order to accomplish this goal, next generation sequencing technologies are being explored. These novel techniques are low cost and allow for targeted sequencing by single padlock-probe multiplex PCR technology on custom designed resequencing arrays.

Used in conjunction with integrative gene and disease network analysis, next generation sequencing study may identify rare DNA variants in different genes that interact in gene disease networks to cause PD.

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