PMID- 23357420
OWN - NLM
STAT- MEDLINE
DCOM- 20130509
LR  - 20130228
IS  - 1090-2104 (Electronic)
IS  - 0006-291X (Linking)
VI  - 431
IP  - 4
DP  - 2013 Feb 22
TI  - A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G 
      and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.
PG  - 670-4
LID - S0006-291X(13)00142-3 [pii]
LID - 10.1016/j.bbrc.2013.01.063 [doi]
AB  - Maternally inherited diabetes and deafness (MIDD) is a mitochondrial syndrome 
      characterized by the onset of sensorineural hearing loss and diabetes in adults. 
      Some patients may have other additional clinical features common in mitochondrial 
      disorders such as pigmentary retinopathy, ptosis, cardiomyopathy, myopathy and 
      renal affections. We report a 40-year-old Tunisian patient presenting maternally 
      inherited type 2 diabetes and deafness (MIDD). A molecular genetic analysis was 
      conducted in the patient and his twin sister, but no reported mutations in the 
      tRNA(Leu(UUR)) and tRNA(Glu) genes were found, especially the two mitochondrial 
      m.3243A>G and the m.14709T>C mutations in muscle and blood leukocytes. The 
      results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) 
      homoplasmic m.3308T>C mutation the 2 tested tissues (blood leukocytes and 
      skeletal muscle) of the proband and in the patient's sister blood leukocytes. In 
      addition, we identified the mitochondrial 12S rRNA m.1555A>G mutation in muscle 
      and blood leukocytes. The Long-range PCR amplification revealed the presence of 
      multiple deletions of the mitochondrial DNA extracted from the patient's skeletal 
      muscle removing several tRNA and protein-coding genes. Our study reported a 
      Tunisian patient with clinical features of MIDD in whom we detected the 12S rRNA 
      m.1555A>G and the ND1 m.3308T>C mutations with mitochondrial multiple deletions.
CI  - Copyright (c) 2013 Elsevier Inc. All rights reserved.
FAU - Mezghani, Najla
AU  - Mezghani N
AD  - Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, 
      Universite de Sfax, Tunisia. najla.mezghani1980@gmail.com
FAU - Mnif, Mouna
AU  - Mnif M
FAU - Mkaouar-Rebai, Emna
AU  - Mkaouar-Rebai E
FAU - Kallel, Nozha
AU  - Kallel N
FAU - Charfi, Nadia
AU  - Charfi N
FAU - Abid, Mohamed
AU  - Abid M
FAU - Fakhfakh, Faiza
AU  - Fakhfakh F
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20130126
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (RNA, Ribosomal)
RN  - 0 (RNA, ribosomal, 12S)
RN  - Noninsulin-dependent diabetes mellitus with deafness
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - DNA, Mitochondrial/*genetics
MH  - Deafness/blood/*genetics/pathology
MH  - Diabetes Mellitus, Type 2/blood/*genetics/pathology
MH  - Humans
MH  - Leukocytes/ultrastructure
MH  - Male
MH  - Mitochondrial Diseases/blood/*genetics/pathology
MH  - Molecular Sequence Data
MH  - Muscle, Skeletal/pathology
MH  - Mutation
MH  - RNA, Ribosomal/*genetics
MH  - *Sequence Deletion
EDAT- 2013/01/30 06:00
MHDA- 2013/05/10 06:00
CRDT- 2013/01/30 06:00
PHST- 2013/01/10 00:00 [received]
PHST- 2013/01/16 00:00 [accepted]
PHST- 2013/01/30 06:00 [entrez]
PHST- 2013/01/30 06:00 [pubmed]
PHST- 2013/05/10 06:00 [medline]
AID - S0006-291X(13)00142-3 [pii]
AID - 10.1016/j.bbrc.2013.01.063 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 2013 Feb 22;431(4):670-4. doi: 
      10.1016/j.bbrc.2013.01.063. Epub 2013 Jan 26.