CHAPTER 4: Micronuclei and Their Association with Infertility, Pregnancy Complications, Developmental Defects, Anaemias, Inflammation, Diabetes, Chronic Kidney Disease, Obesity, Cardiovascular Disease, Neurodegenerative Diseases and Cancer

Micronuclei (MN) are a strong cytogenetic indicator of a catastrophic change in the genetic structure and stability of a cell because they originate from either chromosome breaks or whole chromosomes that have been lost from the main nucleus during cell division. The resulting genetic abnormalities can to lead to cellular malfunction, altered gene expression and impaired regenerative capacity. Furthermore, MN are increased as a consequence of genetic defects in DNA repair, deficiency in micronutrients required for DNA replication and repair and exposure to genotoxic chemicals and ultraviolet or ionising radiation. For all of these reasons, the measurement of MN has become one of the best-established methods to measure DNA damage in humans at the cytogenetic level. This chapter is a narrative review of the current evidence for the association of increased MN frequency with developmental and degenerative diseases. In addition, important knowledge gaps are identified, and recommendations for future studies required to consolidate the evidence are provided. The great majority of published studies show a significant association of increased MN in lymphocytes and/or buccal cells with infertility, pregnancy complications, developmental defects, anaemias, inflammation, diabetes, cardiovascular disease, kidney disease, neurodegenerative diseases and cancer. However, the strongest evidence is from prospective studies showing that MN frequency in lymphocytes predicts cancer risk and cardiovascular disease mortality.