Diabetes and deafness

"MIDD" redirects here. For the liberal arts college in Vermont, see Middlebury College.

Diabetes and deafness (DAD)
Other namesDiabetes mellitus and deafness, maternally inherited, (MIDD); Diabetes-deafness syndrome, maternally transmitted; Ballinger-Wallace syndrome; Noninsulin-dependent diabetes mellitus with deafness; Diabetes mellitus, type II, with deafness
This condition is inherited via a mitochondrial inheritance manner
SymptomsNoninsulin-dependent diabetes, deafness, may also have systemic symptoms including eye, muscle, brain, kidney, heart, and gastrointestinal abnormalities, rarely endocrine abnormalities and osteoporosis
CausesMutation in either MT-TL1, MT-TE, or MT-TK
Differential diagnosisMitochondrial disease

Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of diabetes which is caused from a mutation in mitochondrial DNA, which consists of a circular genome. It is associated with the genes MT-TL1, MT-TE, and MT-TK.[1] The point mutation at position 3243A>G, in gene MT-TL1 encoding tRNA leucine 1, is most common.[1][2][3] Because mitochondrial DNA is contributed to the embryo by the oocyte and not by spermatozoa, this disease is inherited from maternal family members only.[2] As indicated by the name, MIDD is characterized by diabetes and sensorineural hearing loss.[2] Some individuals also experience more systemic symptoms including eye, muscle, brain, kidney, heart, and gastrointestinal abnormalities, similar to other mitochondrial diseases.[4][5][6]

  1. ^ a b "Diabetes and Deafness, Maternally Inherited; MIDD". Online Mendelian Inheritance in Man (OMIM). Retrieved 2024-03-02.
  2. ^ a b c Murphy R, Turnbull DM, Walker M, Hattersley AT (April 2008). "Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation". Diabetic Medicine. 25 (4): 383–99. doi:10.1111/j.1464-5491.2008.02359.x. PMID 18294221. S2CID 205548877.
  3. ^ de Andrade PB, Rubi B, Frigerio F, van den Ouweland JM, Maassen JA, Maechler P (August 2006). "Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function". Diabetologia. 49 (8): 1816–1826. doi:10.1007/s00125-006-0301-9. PMID 16736129.
  4. ^ Cite error: The named reference Maassen_2004 was invoked but never defined (see the help page).
  5. ^ Finsterer J, Frank M (September 2018). "The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness". Oman Medical Journal. 33 (5): 437–440. doi:10.5001/omj.2018.80. PMC 6131922. PMID 30210725.
  6. ^ Yang M, Xu L, Xu C, Cui Y, Jiang S, Dong J, et al. (November 2021). "The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients". Frontiers in Endocrinology. 12: 728043. doi:10.3389/fendo.2021.728043. PMC 8654930. PMID 34899594.