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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Maternal transmission of mitochondrial diseases

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Marcos R. Chiaratti ; Carolina H. Macabelli ; José Djaci Augusto Neto ; Mateus Priolo Grejo ; Anand Kumar Pandey ; Felipe Perecin ; Maite del Collado
Total Authors: 7
Document type: Journal article
Source: GENETICS AND MOLECULAR BIOLOGY; v. 43, n. 1, p. -, 2020.

Abstract Given the major role of the mitochondrion in cellular homeostasis, dysfunctions of this organelle may lead to several common diseases in humans. Among these, maternal diseases linked to mitochondrial DNA (mtDNA) mutations are of special interest due to the unclear pattern of mitochondrial inheritance. Multiple copies of mtDNA are present in a cell, each encoding for 37 genes essential for mitochondrial function. In cases of mtDNA mutations, mitochondrial malfunctioning relies on mutation load, as mutant and wild-type molecules may co-exist within the cell. Since the mutation load associated with disease manifestation varies for different mutations and tissues, it is hard to predict the progeny phenotype based on mutation load in the progenitor. In addition, poorly understood mechanisms act in the female germline to prevent the accumulation of deleterious mtDNA in the following generations. In this review, we outline basic aspects of mitochondrial inheritance in mammals and how they may lead to maternally-inherited diseases. Furthermore, we discuss potential therapeutic strategies for these diseases, which may be used in the future to prevent their transmission. (AU)

FAPESP's process: 17/25916-9 - Mitochondrial dysfunctions and DNA damage in oocytes: implications to fertility
Grantee:Marcos Roberto Chiaratti
Support type: Research Grants - Visiting Researcher Grant - International
FAPESP's process: 17/05899-2 - Effect of the knockout of mitofusins on mouse oocyte: implications to fertility and mitochondrial inheritance
Grantee:Marcos Roberto Chiaratti
Support type: Regular Research Grants
FAPESP's process: 17/19825-0 - Mechanisms of oocyte lipid accumulation in obesity
Grantee:Maite Del Collado Barrondo
Support type: Scholarships in Brazil - Post-Doctorate
FAPESP's process: 18/13155-6 - Mechanisms of lipid accumulation in oocytes under metabolic altered environments: in vitro maturation and obesity
Grantee:Felipe Perecin
Support type: Regular Research Grants