Mitochondrial diseases

Mitochondrial diseases

• Mitochondrial pic

Mitochondrial diseases

Mitochondria are attributed to many degenerative diseases, cancer, and aging. Each mitochondrial disease occurs in only about 1 in 10,000 people (Larsson and Clayton, 1995). Some are due to mutations in the mitochondrial DNA itself (Holt et al., 1988)and others are owing to defects in nuclear genes allied with mitochondrial functions (Triepels et al., 2001). In several cases, mutations in nuclear genes lead to mtDNA damage (Suomalainen and Kaukonen, 2001). They can be maternally inherited or can appear with time (DiMauro and Schon, 2001). Above 50 point mutations and thousands of rearrangements in mitochondrial DNA have been coupled with disease (Kogelnik et al., 1998). Some mtDNA mutations grip tRNA genes (Enriquez et al., 1995) or rRNA genes (Moraes et al., 1991) and thus influence all mitochondrial-encoded proteins. About one-third of point, mutations affect only a single protein-coding gene (Manfredi et al., 2002). Mutations on all mitochondrially synthesized proteins are consistently heteroplasmic, providing good copies of mtDNA to furnish some function. However, some tRNA point mutations have a milder effect and can be homoplasmic (Wallace, 1999). While all of the genes in the mitochondrial DNA are mixed up in energy production, tissues having high energy necessities are affected. Mitochondrial diseases frequently influence the brain, central nervous system, eye, heart, skeletal muscle, renal and endocrine systems (Wallace, 1999). Moreover, most mitochondrial diseases are progressive, which is perhaps due to the addition of mtDNA mutations over time (Zhang et al., 1992). The mutations of mitochondrial DNA compile individually major reasons for the diseases that lead to abnormalities in the brain along with muscular tissues.

Role of Mitochondrial DNA in GDM

GDM can be a risk factor for adverse neonatal outcomes together with birth defects, neonatal hypoglycemia, macrosomia, cardiac dysfunction, and long-term consequences such as obesity, arterial hypertension, and metabolic syndrome (Lee et al., 2008). Moreover, an elevated chance of type 2 diabetes mellitus (T2DM) in the mother. Although insulin resistance is collectively observed in pregnant women with GDM, the cellular mechanisms essential to this type of insulin resistance are not well understood (Wang et al., 2013). Furthermore, 50% of mtDNA mutations are positioned in 22 mitochondrial tRNA genes, including tRNALeu(UUR)(Li and Guan, 2010). mtDNA mutations have been described in relationship with a range of diseases, together with T2DM. Children of women with GDM are more probable to be overweight and have impaired glucose tolerance and be infected with diabetes in early adulthood (Zhang et al,2006). GDM causes foremost and frequently potential maternal and fetal complications counting preeclampsia, polyhydramnios, fetal macrosomia, birth trauma, operative delivery, neonatal metabolic complications, and prenatal death. Enlargement of obesity and diabetes in progeny at some stage in childhood and later maturity of diabetes mellitus in the mother is also consistent with GDM (Cousins, 1987).