Myopathic Disorder Associated With Mitochondrial Abnormalities, Hyperglycæmia, and Hyperketonæmia

Salmon, M; Esiri, M M; Ruderman, Neil B.

doi:10.1016/s0140-6736(71)91335-3

Cited by 29 publications

(10 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This study shows significant reduction in insulin secretion in the mutated subjects compared with the nonmutated members and the normal control subjects. It has been speculated that a mitochondrial mutation-related defect of oxidative phosphorylation in the endocrine cells might result in reduction of hormone secretion (9)(10)(11)(12)(13)(14). Several studies described reduced insulin secretion in diabetes with chronic external ophthalmoplegia (CPEO) and KearnsSayre syndrome (KSS) (9)(10)(11)(12)(13)(14).…”

Section: Results-mentioning

confidence: 99%

Diabetes With Mitochondrial Gene tRNALYS Mutation

et al. 1994

View full text Add to dashboard Cite

show abstract

Section: Results-mentioning

confidence: 99%

Diabetes With Mitochondrial Gene tRNALYS Mutation

et al. 1994

View full text Add to dashboard Cite

show abstract

“…Kadowaki et al [9] and Awata et al [10] demonstrated a significant reduction of maximal insulin secretory capacity and early secretion response of insulin to glucose administration in diabetic patients with the 3243 bp mutation. Several additional reports demonstrated reduced insulin secretion in diabetes with other mitochondrial diseases, such as CPEO and KSS [22,25]. In contrast, Van den Ouweland et al [5] and Sue et al [13] showed substantial rises in insulin concentrations in several diabetic subjects with the mutation.…”

Section: Discussionmentioning

confidence: 95%

Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA L E U ( U U R ) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

et al. 1994

View full text Add to dashboard Cite

Summary Recent evidence suggests possible linkage between diabetes mellitus and mitochondrial gene mutation. We surveyed mitochondrial tRNA LzU(uua) (3243) mutation in 7 mitochondrial encephalomyopathy, lactic acidosis and stroke-like episode (MELAS) families and identified 24 mutated subjects (7 MELAS probands and 17 non-MELAS relatives) as well as 11 non-mutant family members. An OGTT in the 24 mutant relatives revealed 14 diabetic subjects, 3 with impaired glucose tolerance and 7 with normal glucose tolerance and all non-mutant family members as having normal glucose tolerance. Insulinogenic index was significantly reduced in the mutant diabetic subjects and those with impaired and normal glucose tolerance in comparison with the normal control subjects and the non-mutant members. Urinary 24-h C-peptide immunoreactivity excretion was markedly reduced in the mutant diabetic subjects and those with normal and impaired glucose tolerance, compared with the control subjects and the non-mutant family members. Plasma C-peptide immunoreactivity 6 rain after glucagon injection was markedly reduced in the mutant diabetic subjects and those with normal and impaired glucose tolerance compared with the control subjects and the non-mutant family members. Si, an index of insulin sensitivity of the four mutant subjects was within normal range. Islet cell antibodies were negative in sera of eight mutated diabetic subjects, 2 and 6 with impaired and normal glucose tolerance, respectively. Diabetic retinopathy and nephropathy were demonstrated in 7 (50 %) and 12 (85.7 %) of 14 mutant diabetic subjects, respectively. Neurosensory deafness was demonstrated in 12 (85.7 %) of 14 mutated diabetic subjects, (66.7 %) of 3 mutated impaired glucose tolerant subjects, but not detected in 6 mutated normal glucose tolerant subjects and 11 non-mutant family members. These findings suggest that the tRNA Lzu(uuR) mutation is associated with pancreatic beta-cell secretory defect of insulin. [Diabetologia (1994) 37: 818-825]

show abstract

“…Case histories of 17 patients [6,10,14,18,19,[22][23][24]28] have been published who suffered from DM associ ated with MM, including K.SS (table 1). Lakin et al [18] reported a 21-year-old woman with ophthalmoplegia and ovarian dysfunction with DM.…”

Section: Discussionmentioning

confidence: 99%

“…Some patients with MM were described to require daily insulin administrations [10,14,18]. Salmon et al [23] observed a poor fasting insulin secretion in a 5-yearold girl with MM. These facts mean that DM in MM results from the same mechanism, an impaired insulin secretion.…”

Section: Discussionmentioning

confidence: 99%

“…There are additional manifestations including generalized muscle weakness, ataxia, short sta ture, deafness and various endocrinological dysfunctions [1,3,16]. Endocrinological abnormalities in KSS or other MM include hypogonadism [18,24], hypoparathy roidism [12,28], hyperthyroidism [4], hyperaldosteron ism [25], adrenocorticotropic hormone deficiency [9] and diabetes mellitus (DM) [6,10,14,18,19,[22][23][24]28] or impaired glucose tolerance. It has not been well estab lished in MM whether DM is due to insulin resistance or impaired insulin secretion resulting from an abnormality of the islets of Langerhans, and how the underlying mito chondrial defect can play a role in the onset of DM.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Diabetes mellitus in Kearns-Sayre Syndrome

Tanabe¹,

Miyamoto²,

Kinoshita³

et al. 1988

Eur Neurol

View full text Add to dashboard Cite

A 20-year-old woman with Kearns-Sayre syndrome (KSS) suddenly experienced two episodes of diabetic coma. She was studied to determine whether diabetes mellitus (DM) resulted from insulin resistance or from an insulin secretion abnormality, using the euglycemic glucose clamp technique and the glucagon tolerance test. She had a deficiency of insulin secretion from beta cells. It is important to recognize in practice the onset of DM in patients with mitochondrial myopathy. We would suggest that a genetic linkage or mitochondrial dysfunction may be responsible for the association of both disease states.

show abstract

Myopathic Disorder Associated With Mitochondrial Abnormalities, Hyperglycæmia, and Hyperketonæmia

Cited by 29 publications

References 20 publications

Diabetes With Mitochondrial Gene tRNALYS Mutation

Diabetes With Mitochondrial Gene tRNALYS Mutation

Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA L E U ( U U R ) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

Diabetes mellitus in Kearns-Sayre Syndrome

Contact Info

Product

Resources

About