Gastrointestinal manifestations of mitochondrial disorders: a systematic review

Abstract

Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus, liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or obstruction of the GI tract, recurrent bowel perforations with intra-abdominal abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli. Diagnosing GI involvement in MIDs is not at variance from diagnosing GI disorders due to other causes. Treatment of mitochondrial GI disease includes noninvasive or invasive measures. Therapy is usually symptomatic. Only for myo-neuro-gastro-intestinal encephalopathy is a causal therapy with autologous stem-cell transplantation available. It is concluded that GI manifestations of MIDs are more widespread than so far anticipated and that they must be recognized as early as possible to initiate appropriate diagnostic work-up and avoid any mitochondrion-toxic treatment.

Transcriptome Analysis Reveals Mechanism Underlying the Differential Intestinal Functionality of Laying Hens in the Late Phase and Peak Phase of Production

“…In support of this view, we also observed downregulations of several GO clusters related to oxidation resistance such as hydrogen peroxide catabolic process, removal of superoxide radicals, glutathione transferase activity, and antioxidant activity in LP group. Since mitochondria in the intestinal tissue is highly sensitive to oxidative stress that can lead to an inactivation of respiratory chain enzymes [42,43], the depressed oxidation resistance of the intestine presumably induced an inefficiency of energy production of layers in LP group [44,45]. This was in accordance with the finding that oxidative stress-induced disorder of energy production via the dysfunctional mitochondria plays a fundamental role in age-related processes [46].…”

MELAS in a Walk-in Customer

“…6 Arguments for MELAS in the patient are short stature, hypertelorism, the SLL, hypoacusis, ptosis, ophthalmoparesis, quadruparesis, diverticulosis, polyposis, renal insufficiency, heart failure, AV-block 1, lung cysts and ovarian cysts, hemangioma in the liver, suprarenal adenoma, and lactic acidosis (►Table 1). 7,8 A further strong argument for a MID is the occurrence of four neoplasms (suprarenal adenoma, two urothelial carcinoma, colonic carcinoma), as has been previously reported in genetically confirmed MIDs. 9 In conclusion, this case shows that patients with a first generalized tonic-clonic seizure require multimodal MRI, that ischemic stroke needs to be delineated from SLEs, and that MIDs may manifest as mitochondrial multiorgan disorder syndrome (MIMODS).…”

Lipomatoses

“…An example of this is alcohol‐induced pancreatic lipomatosis. This is partially reversible (if fibrosis has not yet taken place); this indicates a genesis different from that of other lipomatoses .…”