In order to determine the role of mitochondrial DNA mutations in thyroid tumorigenesis, Abu-Amero et al. (2005) sequenced the entire mtDNA from 24 thyroid tumor specimens and four thyroid cancer cell lines.  Somatic mutations were identified in 37% of primary thyroid carcinomas (PTC) and among 25% of multinodular hyperplasia cases.  Most mutations were nucleotide substitutions resulting in missense mutations.  Of these mutations, 14 were nonsynonymous and 36 were synonymous.  Three synonymous variants were detected in the CYTB gene in both PTC and normal population.  In a later study, Abu-Amero et al. (2006) sequenced the entire coding region of mitochondrial DNA for 26 MTC patients and 119 normal population controls.  Of the MTC patients, 13 were sporadic, nine had MEN 2A, one had MEN 2B, and three had FMTC.  In 20 MTC samples, 41 nonsynonymous mutations were detected; nine were from sporadic MTC and 11 were from familial MTC and MEN2.  Also, 15 synonymous mtDNA sequence variants were found in MTC samples, seven of them were novel. Twenty seven mutations were transversions; 22 nonsynonymous and six synonymous.  These transversion variants were only detected in FMTC/MEN2 while transition variants were mainly found in sporadic MTC cases.  Six nonsynonymous and three synonymous mutations were identified within the MT-CYTB gene.  None of these mutations were present in the normal controls, suggesting that mtDNA mutations may be involved in MTC tumorigenesis and progression.  Abu-Amero and Bosley (2006) studied further the molecular and biological characteristics of mitochondria in patients with Leber hereditary optic neuropathy (LHON)-like optic neuropathies.  Thirty five patients (21 males and 14 females) and 159 matched controls from Saudi Arabia were included in this study.  Forty one non-synonymous mtDNA sequence variants were identified in LHON patients; 14 were pathogenic.  Of these variants, 21 were in complex I, seven in complex III, five in complex IV, six in complex V, one in tRNA glutamine, and one in 12S rRNA.  Similar to previous reports on mutation association with LHON, these mtDNA changes were transitions.  Seven nucleotide changes  were found within the MT-CYB gene: 14766TVC, 14798TVC, C14862T, G15257A, A15326G, C15452A, and T15674C.  One of these variants, T15674C, was pathogenic.  The G15257A mutation was present in patients and in control subjects.