Biological and Statistical Studies for Diseases Involving Mtdna Mutations

Mitochondrial DNA (mtDNA) mutations have been shown to be involved in several rare and complex diseases. This paper first presents a brief review on mitochondrial genetics, heteroplasmic mtDNA transmission and biological studies for diseases related to mtDNA mutations. Then we present a detail review on statistical methods for testing mtDNA mutation involvement in diseases and for estimating their contribution to the disease if mtDNA mutations are involved. Available methods for studying the interaction between nuclear and mtDNA mutations are also discussed. The purpose of this paper is to stimulate research in the statistical studies of mitochondrial diseases.